Department of Health
John J. Dreyzehner, MD, MPH, Commissioner
Information for Parents and Providers
Parents
What to Expect
Most newborns are born healthy and normal. However, there are some health problems that may not
be detected on a routine exam by your baby's physician. This is why blood tests are used to screen newborns for these problems. A filter paper blood spot sample is required by state law to be submitted to the Tennessee State Laboratory for every baby born in Tennessee. A newborn baby may look perfectly healthy, but still have an inherited disease. To prevent the effects of disease, the sample should be drawn during the infant's first two to three days of life.
How and Where Your Baby is Tested
Before your baby leaves the hospital nursery, his or her heel will be pricked and a few drops of blood will be collected. This blood specimen will be sent to the State Laboratory in Nashville for testing.
What is Parents Role
After you get home from the hospital, you may be contacted by your baby's health care provider or health department to bring your baby in for a repeat blood sample. It is important that you follow-up quickly. If you have any concerns about the results of the screening tests, please contact your baby's health care provider.
FAQs
What is Metabolic Newborn Screening?
Testing for rare treatable disorders of body chemistry.
Who is Screened?
Your baby and every baby born in Tennessee.
When is it done?
Before you take your baby home from the hospital or
between24-48 hours after birth if your baby is not born
in a hospital.
How is the testing done?
Before you take your baby home from the hospital, the
nurse or laboratory technician will obtain a few drops of blood from your baby’s heel. The blood is absorbed onto a special filter paper, and sent to the state laboratory for testing. This testing will determine if your baby may have any of these disorders. It is important to note that these are screening tests, not diagnostic tests. More testing will need to be done if the screening test is abnormal.
Why is it done?
Babies with these disorders usually appear completely normal at birth. However, without treatment, they can become very sick and/or mentally retarded. These bad effects can be prevented or reduced with treatment if the disorders are detected early.
But my baby seems very healthy. Are the tests still necessary?
YES! Most babies with these disorders show no obvious signs of disease at birth. There is an “invisible” problem in one of the many chemicals that are produced in the baby’s body. The special screening tests detect these chemical changes before problems develop. By testing every baby shortly after birth, we can be sure that a baby who has one of these disorders will be identified and started on treatment early.
If my baby has one of these disorders, can it be cured?
No, not really. It cannot be cured, just as eye color or height can’t be permanently changed. However, the serious effects of the disorder can be lessened and often completely prevented if a special diet or other medical treatment is started early.
Will I receive a report of the test results?
Your doctor or health department will be informed of the results. Generally parents are notified only if repeat testing is needed. You can ask about the result when you take your baby to the doctor for a regular checkup.
What happens if one of the tests’ results is “abnormal”?
If any of the tests are abnormal, showing a possible disorder, the follow-up program will contact your health department or baby’s doctor and a specialist from the metabolic/genetic network immediately to request another blood sample. You will be asked to bring your baby in for a retest as soon as possible. Prompt action is very important. For confirmation and treatment, your baby will be referred to a specialist. You should make sure the hospital where your baby is born has your correct name, address and phone number. If you child should need to be retested, your baby’s doctor will know where to reach you. Remember, time is very important.
If a retest is necessary, does that mean that my baby is sick?
Not necessarily. Retesting may be required for a number of reasons such as the first test was improperly collected, the baby received a blood transfusion, the specimen was collected when your baby was less than 24 hours of age or it could indicate a possible disorder. While taking your baby in for retesting can be scary, it is important that every baby has a thorough screening for all the disorders. Only on a very rare occasion will the doctor insist on treating the baby immediately while waiting for the results of the second test.
If my baby has a disorder, will my future children have it also?
Possibly. Families who have a child with one of these disorders should obtain information about their future risks from trained professionals with the Tennessee Genetics Network.
What is Newborn Hearing Screening?
Hearing screening is not a blood test. Babies can have their hearing checked soon after birth. The test is very safe and does not hurt. Your baby may “pass” the hearing test or may need to be “referred” for further testing. Half of all babies identified with a hearing loss do not have a known cause for hearing loss. Babies identified with a hearing loss will be encouraged to be evaluated at a genetic center. Only 10 percent of babies with a hearing loss are born to parents who have a hearing loss. Significant hearing loss in both ears is present in 1-3 per 1000 newborns in the well baby nursery population, and 2-4 per 1000 in the intensive care unit population. For more information, call (615) 741-8530 or
(615) 262-6160.
Where is it done?
The blood sample is taken in the hospital or birthing center. The testing is done at the State Newborn Screening Laboratory in Nashville
Disease Descriptions
Disease Descriptions for Parents
(Glossary of Terms -pdf)
| Name of Disease | Description HTML |
Description |
|---|---|---|
| Amino Acid Disorders |  |
 |
Biotinidase Deficiency |
|
|
| Congenital Adrenal Hyperplasia | |
|
Congenital Hypothyroidism |
|
|
Cystic Fybrosis |
|
|
Fatty Acid Oxidation Disorders |
|
|
Galactosemia |
|
|
Hemoglobinopathies (Sickle Cell Anemia) |
|
|
Homocystinuria |
|
|
Maple Syrup Urine Disease (MSUD) |
|
|
Medium Chain Acyl CoA Dehydrogenase (MCAD) Deficiency |
|
|
Organic Acid Disorders |
|
|
Phenylketonuria (PKU) |
|
|
Resources
General Resources for Parents
A list and description of state and national informational resources on genetics, newborn metabolic screening and newborn hearing screening can be found below.
Tennessee Resources
- Family Voices of Tennessee
Provides regional informational resources and support for family members of children with special health care needs. There is also the opportunity to join Family Voices of Tennessee Network to help improve health care and related services for children. - Tennessee Family Pathfinder
Internet community for families seeking information on disability resources on a local, state, and national level. Topics of interest include assistive technology, child care, education, family support, health care, news, Tennessee disability services etc. - Tennessee’s Early Intervention System
A state program devoted to providing services to families of children with special needs (birth to three years). This site also provides links to the Tennessee Department of Education Home page.
National Resources - General Information
- March of Dimes
General information on pregnancy, birth defects, prematurity, newborn screening, and select genetic conditions. - Medline Plus
A service provided by the U.S. National Library of Medicine and the National Institute of Health to allow individuals to search for information and resources on specific conditions (PKU, galactosemia, etc.) or through broad topics (for example: genetics/birth defects). - National Health Law Program
A national public interest law firm that seeks to improve health care for America's working and unemployed poor, minorities, the elderly and people with disabilities. Search through broad topics on advocacy and child health or do a specific search on genetic testing, newborn screening, etc.
Genetic and Metabolic Information
- Medical Genetics, University of Kansas Medical Center
Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, national and international organizations. - Genetests
Provides excellent reviews of most of the newborn screening disorders (not homocystinuria or hypothyroidism) and other genetic disorders along with support resources. Also provides geographic location of medical genetics evaluation and counseling services that are updated annually at a minimum. Also provides education materials like a Glossary of genetic terms and PowerPoint Slides. - Genetic Alliance
Provides disease specific information, support groups resources along with discussion of current ethical, legal, and social issues - DMOZ Open Directory Project
Provides a comprehensive database of links to information, organizations and support groups for genetic topics and rare genetic conditions.
Hearing Screening Information
- My Baby’s Hearing
Information on newborn hearing screening, hearing loss, hearing aids, cochlear implants, causes of hearing loss, language & learning, and parent to parent support. - Library Services for the Deaf and Hard of Hearing
Tennessee library service for the deaf and hard of hearing with a reference section, assistive device section, a media resource guide and the Tennessee Directory of Services for People Who are Deaf and Hard of Hearing. - Project TREDS (Tennessee Technical Assistance and Resources for Enhancing
Deaf/Blind Supports): A federally funded program that provides technical assistance for individuals, from birth through age 21, who have both vision and hearing impairments. This program is designed to improve the quality of support to infants, toddlers, children, and young adults who are deaf/blind.
Providers
Responsibilities
Provider Information
It is the providers’ responsibility to make sure the newborn has had a screen, reviewed and interpreted results 
with respect to blood transfusion and diet status. Also providers should inform parents/guardian of results. If a specimen is unsatisfactory or abnormal it is the responsibility of parents and providers to obtain a repeat specimen once notified. The screening results will be mailed to the submitter of the specimen and to the provider listed on the newborn screening form.
If the results are unsatisfactory (poor collection) both the provider and parents will receive a letter from the newborn screening follow up program requesting a repeat to be submitted.
If the results are presumed positive for disease, follow up notifies provider and tertiary center by phone and fax. Appropriate recommendations are made based on the result. Once notified please contact the parent or guardian as soon as possible to help facilitate the child to be rescreened, have confirmatory testing or a referral made. Follow up along with the tertiary center ensures patient has confirmatory testing, diagnosis and treatment when necessary. Abnormal cases are followed until closed with confirmed diagnosis and treatment or within normal limits.
This is a screening test that can be affected by baby's age, medical or treatment status at the time of specimen collection; the quality and quantity of the specimen or other variables and may not detect all affected babies. The possibility of false negative or false positive results must always be considered when screening newborns for metabolic disorders. Regardless of the results of the newborn screen, the child’s health care provider should proceed with diagnostic testing on any infant exhibiting clinical signs and symptoms.
FAQs
Frequently Asked Questions (FAQs) for Providers
A list and description of state and national informational resources on genetics, newborn metabolic screening and newborn hearing screening.
What do I do if an infant was discharged before specimen was collected?
When the nursery or lab forgets to get a specimen on an infant before he/she leaves the hospital,
submit a newborn screening collection form completely filled in and write, “LEFT BEFORE OBTAINED” on the form. You are responsible for notifying the parent and the physician that the infant was not screened and needs to be tested. Additionally Newborn Screening Follow-Up (NBS F/U) will contact the physician to notify him/her that the infant needs to be screened. When a collection form for these infants is not sent in, NBS F/U is unaware that the infant exists.
What do I do if a parent refuses to let baby be tested?
When a parent refuses the newborn screening test, send in a newborn screening collection form completely filled in and write “REFUSED” on the form and document in patient chart. If a parent refuses the test due to religious reasons, please fill out the Newborn Screening Refusal form. This form should be retained in the medical record for the period of time defined by the hospital or provider per policy
Can I collect a specimen on a baby who is > 6 months of age?
The test methods used by the Newborn Screening Laboratory are not suitable for infants greater than 6 months of age. If the infant is greater than 6 months of age, contact the Metabolic Center closest to the provider to inquire which tests need to be performed and where to send the specimens.
How long do I wait to collect a screen if baby has been transfused?
Always collect a newborn screening before any transfusion even if the infant is < 24 hours old, the hemoglobin and biotinidase enzyme results will be accurate and will not need to be repeated if the results are normal.
- All tests except HGB: Collect a filter paper 4 days past transfusion if baby did not have a normal newborn screen on lactose feeds or if the 1st specimen was collected at < 24 hours of age.
- Hgb (hemoglobin): Will need to be collected 3 months after the last transfusion if a filter paper was not collected prior to transfusion identifying a normal hemoglobin. This specimen will need to be collected in a microvette tube and sent to the Meharry Sickle Cell Center.
*If an infant has symptoms such as vomiting diarrhea, dehydration, or jaundice, the newborn screen should be repeated immediately regardless of the number of days that have passed since the transfusion. In addition, the regional metabolic center or endocrinologist (depending on symptoms) should be contacted.
Are there special considerations if a baby is in the NICU or a Premature newborn?
Sick or premature newborns should have a specimen collected on or near the seventh day of age regardless of feeding status or before transfusion. Amino acids, such as PKU results are based upon the assumption the infant has been on protein feed. Total Galactose results are based on the assumption the infant is on a lactose feeding. If the infant is sick or not feeding well and the physician feels a test is not accurate due to the infants feed status, the physician is encouraged to obtain a repeat specimen. If an infant is on soy formula, the provider can request galactose enzyme to be done by marking “Gal Enz” on the collection form.
Do I need to notify someone if a newborn has passed away?
If you are aware of an infant that has expired, please fax the following information to NBS F/U at
(615) 262-6458:
- the child’s name
- date of birth
- mother’s name
- date the infant expired
This is important! In the event a specimen needs to be repeated, NBS F/U will continue to send letters to the mother until the specimen is received. In this case, NBS F/U does NOT want to notify the parent and inflict further heartache.
How can I get test results?
The results of all specimens are reported to the hospital that collected the specimen and the physician or provider listed on the form. If you need a copy of a Newborn Screening Report and your hospital or physician was not listed on the original form you can utilize the Voice Response System to listen to or have results faxed to you. You will need mother's social security number (SSN) in order to obtain results.
What is the Voice Response System?
The Voice Response System (VRS) provides a convenient method for physicians to access newborn screening test results 24 hours a day every day of the year. Physicians will access the system using their Tennessee Physician License number and a PIN (personal identification number). Once gaining access to the system they will enter the mother’s SSN to search for the infant and results. The Voice Response System benefits both the newborn baby and the health care providers. The newborn gains by the faster turn around and availability of test results for the health care providers. Twenty-four hour access to the system will allow physicians to find out quickly if an infant has a possible disease that may be life threatening.
What is the Hospital's responsibility?
The responsibility of the hospital is to provide the parents with a pamphlet about the Newborn Screening Program fill out the newborn screening form completely, legibly and accurately and collect a satisfactory specimen on every newborn prior to discharge.
What is the Provider's responsibility?
Making sure the patient has had a newborn screen, reviewed and interpreted results with respect to blood transfusion and diet status. Also providers should inform parents/guardian of results. If a specimen is unsatisfactory/abnormal it is the responsibility of parents and providers to obtain a repeat specimen once notified.
Collection Procedure: Visit the Tennessee State Laboratory Website and view the Newborn Screening Directory that provides Collection Procedure and Shipping Information. Also the Newborn Screening Video is available which includes information about the Newborn Screening Program and collection method.
What is the Tertiary Center's responsibility?
The centers are Endocrinologist, Genetic and Hematology Centers located across the State. They provide general genetic services for citizens living in a recognized geographic area and follow-up and provide confirmatory diagnosis testing for presumed positive cases from the state Newborn Screening Program.
How can I get results for a baby born out of state?
The National Newborn Screening Genetics Resource Center website has a list of all State Laboratory and Newborn Screening Follow Up contact numbers. Please call that State NBS Program for results.
Does the Newborn Screening laboratory run tests everyday?
The regular work hours for the Newborn Screening Lab are 7:00 am to 4:30 pm Monday through Friday. However, mail is picked up from the Post Office daily Monday through Saturday and on holidays. Alternative mail services make daily deliveries to the newborn screening lab Monday through Friday as needed. Alternative mail services can deliver mail to the security guard at front door of the lab on week ends and holidays. Newborn Screening lab does perform screening during the Thanksgiving and Christmas holidays. All mail received on weekends or holidays is dated and run on the next working day in the order of the date received. On any holidays greater than 3 days, lab personnel will come in to perform testing, specimens will not go longer than 3 days without being tested. Written reports of normal specimens are mailed within 5 to 7 working days after receipt in the laboratory.
Are hospitals aware of their Unsatisfactory Rate of Specimen collection?
The Newborn Screening Follow Up Program distributes monthly and quarterly reports* to assist you in your quality assurance program. These are listed below:
Monthly and Year to Date Unsatisfactory Specimen Report
A monthly report, customized for your hospital, that gives the total number of specimens submitted, total number of unsatisfactory specimens, the percent unsatisfactory, and reason(s) for specimen(s) rejected for the month and year to date.
Hospitals Ranked by Unsats
A quarterly report giving the total specimens, total unsatisfactory, and percent unsatisfactory. This report will allow you to compare your hospital to hospitals that have a comparable number of births.
Specimens Detailed Report
A quarterly report that details each unsatisfactory specimen by patient name and other identifying information. This report will enable you to research causes for each unsatisfactory to ascertain areas to target for quality assurance interventions.
Monthly and Year-to-Date Unsatisfactory Specimen State Report
A monthly report that summarizes all of the data for the state. It gives the total number of specimens submitted, total number of unsatisfactory specimens, the percent unsatisfactory, and reason(s) for specimen(s) rejected for the month and year to date for all hospitals submitting specimens. This tool can be used as a benchmark for comparing your data with that of your peers.
*These reports generated by NBS F/U were created by Neometrics Newborn Screening Software by Natus Medical Incorporated, San Carlos, CA
Disease Descriptions
Resources
General Resources for Providers
A list and description of informational resources on newborn metabolic screening, genetics and continuing education can be found below.
Newborn Screening Resources
- American Academy of Pediatrics
Provides information on newborn screening disorders, including detection, evaluation and treatment. - National Newborn Screening and Genetic Resources Center
Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and government officials. - National Center for Hearing Assessment and Management
Information on newborn hearing screening programs, diagnostic audiology workshops, early intervention, family support, legislative activities, resource center, and research news.
Education Resources
- March of Dimes
Information for HCP on genetic testing screening, Family health & social Histories, Referrals to Genetic Services, CME credits, Resource Tools - Human Genome Project
Provides links to information and research related to the Human Genome Project. In particular links for Progress in Genome Projects, Genetics and Life Sciences, Protein Research, Proteomics, Models, Trangenics. - Centers for Disease Control and Prevention Office of Genomics and Disease Prevention
Provides information about human genetic discoveries and how they can be used to improve health and prevent disease. Great for books, conference materials, fact sheets, online presentations, programs, activities, links for support groups, ethical, legal, & social issues, region and state genetics sites.
Genetic Resources
- Genetests
Provides excellent reviews of most of the newborn screening disorders (not homocystinuria or hypothyroidism) and other genetic disorders along with support resources. Also provides geographic location of Medical Genetics evaluation and counseling services that are updated annually at a minimum. Also provides education materials like a Glossary of genetic terms and PowerPoint Slides. - Online Mendelian Inheritance in Man
Provides information about known or suspected single gene disorders (dominant, recessive, X-linked, Y-linked, mitochondrial) with gene maps and allied resources. - National Institute of Health
The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the primary Federal agency for conducting and supporting medical research. Helping to lead the way toward important medical discoveries that improve people’s health and save lives, NIH scientists investigate ways to prevent disease as well as the causes, treatments, and even cures for common and rare diseases. - Medline Plus
A service provided by the U.S. National Library of Medicine and the National Institute of Health to allow individuals to search for information and resources on specific conditions (PKU, galactosemia, etc.) or through broad topics (for example: genetics/birth defects). - National Organization for Rare Disorders
Provides information about rare genetic disorders and extensive support resource links for each condition. - American College of Medical Genetics
The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic disease.
Hospitals
Responsibilities
Hospital Information
All infants born in Tennessee must have a newborn screening submitted to the Tennessee State Laboratory. It is the hospitals responsibility to fill out the collection form completely and accurately and to submit a satisfactory newborn screen on all infants prior to discharge regardless of age. This is a screening test that can be affected by baby's age, medical or treatment status at the time of specimen collection; the quality and quantity of the specimen or other variables and may not detect all affected infants. The possibility of false negative or false positive results must always be considered when screening newborns for metabolic disorders.
Hearing: The Department of Health now requires hospitals and birthing facilities to report hearing screening results. Results are to be submitted on the newborn metabolic/genetic blood-spot form or the Hearing Only form and submitted to the State laboratory. See Hearing Screening section for more details.
Transfer: If the hospital is transferring a newborn to another facility they must collect a newborn screen prior to transfer.
Expired Infant: If an infant has passed away and a newborn screen was collected the hospital should submit a death notice to the newborn screening follow up program (615) 262-6458.
Pamphlets: It is the responsibility of the hospital to distribute “Your Baby and Newborn Screening”, an educational pamphlet to all parents of a newborn.
Filter Cards: Contact your local health department to request the Newborn screening filter cards or fax the Lab Requisition Form to the State Laboratory
Missed Screen: If the nursery or lab does not collect a specimen before an infant leaves the hospital, submit a newborn screening collection form completely filled in and write, “LEFT BEFORE OBTAINED” on the form. You are responsible for notifying the parent and the physician that the infant was not screened and needs to be tested. This could cause a delay in testing, diagnosis and treatment if the infant does have a metabolic disorder. Your facility must have a system in place to guarantee that a newborn screen is not missed.
Refuse:If a parent refuses the newborn screening test, send in a newborn screening collection form completely filled in and write “REFUSED” on the form and document in patient chart. Fill out the Newborn Screening Refusal. This form should be retained in the medical record for the period of time defined by the hospital or provider per policy.
Transfusion: Always collect a newborn screening before any transfusion even if the infant is <24 hours old, the hemoglobin and biotinidase enzyme results will be accurate and will not need to be repeated if the results are normal. Collect a filter paper 4 days past transfusion if baby did not have a normal newborn screen on lactose feeds or if the 1st specimen was collected at <24 hours of age. If an infant has symptoms such as vomiting diarrhea, dehydration, or jaundice, the newborn screen should be repeated immediately regardless of the number of days that have passed since the transfusion. In addition, the regional metabolic center or endocrinologist (depending on symptoms) should be contacted.
Sick or Premature Newborn: Sick or premature newborns should have a specimen collected on or near the seventh day of age regardless of feeding status or before transfusion. Amino acids, such as PKU results are based upon the assumption the infant has been on protein feed. Total Galactose results are based on the assumption the infant is on a lactose feeding. If the infant is sick or not feeding well and the physician feels a test is not accurate due to the infants feed status, the physician is encouraged to obtain a repeat specimen. If an infant is on soy formula, the provider can request galactose enzyme to be done by marking “Gal Enz” on the collection form.
Quality Assurance: The Newborn Screening Follow Up Program distributes quarterly reports to assist your facility with a quality assurance program. These reports include the number of specimens submitted and the number of specimens that were reported as unsatisfactory. View reasons the Newborn Screening Laboratory deems a specimen unsatisfactory: Common Causes of Unsatisfactory Specimens.
The Newborn Screening Follow Up Program distributes monthly and quarterly reports* to assist you in your quality assurance program. These are listed below:
Monthly and Year to Date Unsatisfactory Specimen Report
A monthly report, customized for your hospital, that gives the total number of specimens submitted, total number of unsatisfactory specimens, the percent unsatisfactory, and reason(s) for specimen(s) rejected for the month and year to date.
Hospitals Ranked by Unsats
A quarterly report giving the total specimens, total unsatisfactory, and percent unsatisfactory. This report will allow you to compare your hospital to hospitals that have a comparable number of births.
Specimens Detailed Report
A quarterly report that details each unsatisfactory specimen by patient name and other identifying information. This report will enable you to research causes for each unsatisfactory to ascertain areas to target for quality assurance interventions.
Monthly and Year-to-Date Unsatisfactory Specimen State Report
A monthly report that summarizes all of the data for the state. It gives the total number of specimens submitted, total number of unsatisfactory specimens, the percent unsatisfactory, and reason(s) for specimen(s) rejected for the month and year to date for all hospitals submitting specimens. This tool can be used as a benchmark for comparing your data with that of your peers.
*These reports generated by NBS F/U were created by Neometrics Newborn Screening Software by Natus Medical Incorporated, San Carlos, CA
Collection Procedure: Visit the Tennessee State Laboratory Website and view the Newborn Screening Directory that provides Collection Procedure and Shipping Information. Also the Newborn Screening Video is available which includes information about the Newborn Screening Program and collection method.
Unsatisfactory Reports
- Hospital Unsatisfactory Reports
VRS
Tennessee Voice Response System
Local (Nashville) 262-3041
Toll Free (866) 355-6132
Welcome to the State of Tennessee Voice Response System (VRS), a Newborn Screening Information System, offered by the Tennessee Department of Health and Newborn Screening.
The VRS is intended to provide quick access 24 hours a day/7 days a week to screening results via telephone or fax. The system provides step by step instructions to obtain Newborn Screening Information.
How do I Register?
Tennessee Physicians can register with the program to gain access by filling in the VRS Access Form and faxing it to (615) 262-6458. Allow 48 hours for the Office to enter your information into the system
How does the system work?
When dialed, that number will connect you with a computerized voice response system which will access the newborn screening computer system. Using the keypad on a touch tone telephone, you will be able to request test results from the computer’s database. In order to gain access to the system you must have:
-
Valid Tennessee Physician’s License Number
-
Personal Identification Number (PIN)
-
Touch tone phone
-
Mother’s Social Security Number
-
Fax machine, if you wish to receive faxed results
Once registered, your temporary Personal Identification Number (PIN) is 1234. You will be prompted to change this PIN when you access the system for the first time.
Additional information may also be obtained by contacting the Newborn Screening Program at
(615) 262-6304.
Disorders
List of Disorders
The following is a list and description of disorders that are screened for in the state of Tennessee.
| Disorders |
Click on acronym for more information |
Click on OMIM # for
more information |
|---|---|---|
| 2 Methyl 3 hydroxy butyric aciduria (2M3HBA or 2MHBD) | ||
| 2MHBD is an Organic Acidemia, a group of autosomal recessive conditions in which there is a defect in protein metabolism where an essential enzyme is absent or malfunctioning causing accumulation of organic acids in blood and urine. Clinical symptoms of OA may include vomiting, metabolic acidosis, ketosis, hyperammonemia, lactic acidosis, hypoglycemia, failure to thrive, hypotonia, global developmental delay, sepsis, hematological disorders and ultimately death. The effect of the disorder will depend on the age at which symptoms occur. Delay in the recognition and treatment may have tragic consequences. | ||
| 2 Methylbutryl CoA Dehydrogenase Deficiency (2MBCD) | ||
| 2MBCD is an Organic Acidemia, a group of autosomal recessive conditions in which there is a defect in protein metabolism where an essential enzyme is absent or malfunctioning causing accumulation of organic acids in blood and urine. Clinical symptoms of OA may include vomiting, metabolic acidosis, ketosis, hyperammonemia, lactic acidosis, hypoglycemia, failure to thrive, hypotonia, global developmental delay, sepsis, hematological disorders and ultimately death. The effect of the disorder will depend on the age at which symptoms occur. Delay in the recognition and treatment may have tragic consequences. | ||
| 2,4 Dienyl CoA Reductase Deficiency | ||
| 2,4 Dienyl CoA Reductase Deficiency is a Fatty Acid Oxidation Disorders, a group of inherited metabolic conditions that lead to an accumulation of fatty acids and a decrease in cell energy metabolism due to an enzyme defect in the fatty acid metabolic pathway (use of dietary and stored fat). During the first crisis children have presented with metabolic acidosis, persistent vomiting, hypoglycemia, lethargy, apnea, encephalopathy, coma, cardiopulmonary arrest, or sudden unexplained death. It is imperative to identify a child with this disease so that crisis can be prevented. | ||
| 3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency (HMG) | ||
| 3-hydroxy-3-methylglutaryl-coenzyme A (CoA) lyase deficiency is an uncommon inherited disorder in which the body cannot properly process a particular amino acid (a building block of proteins). Additionally, the disorder prevents the body from making ketones, which are used for energy during fasting (periods without food). This disorder usually appears within the first year of life. The signs and symptoms of include vomiting, dehydration, extreme tiredness, convulsions, and coma. When episodes occur in an infant or child, blood sugar becomes extremely low, and harmful compounds can build up in the blood. These episodes are often triggered by an infection, fasting, strenuous exercise, or sometimes other types of stress. | ||
| 3 Methyl Crotonyl CoA Carboxylase Deficiency (3 MCC) | ||
| 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing a particular building block (amino acid). Infants with this disorder appear normal at birth but usually develop signs and symptoms during the first year of life or in early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness, and weak muscle tone. If untreated, this disorder can lead to delayed development, seizures, and coma. Early detection and lifelong management (following a low-protein diet and using appropriate supplements) may prevent many of these complications. | ||
| 3 Methylglutaconyl CoA Hydratase Deficiency (3MGA) | ||
| 3 Methylglutaconyl CoA Hydratase Deficiency is an autosomal recessive disorder characterized clinically by various symptoms ranging from mild features, including delayed speech development and hyperchloremic acidosis associated with gastroesophageal reflux, to a more severe phenotype, including seizures and cerebellar abnormalities. | ||
| Argininemia (Arginase Deficiency) | ||
| Arginase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe mental retardation. Seizures are common and are usually controlled easily. | ||
| Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria) | ||
| Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia is toxic, especially to the nervous system, and usually becomes evident in the first few days of life. An infant may seem lethargic or be unwilling to eat, have poorly-controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. Complications may include developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen. Immediate treatment and lifelong management (following a strict diet and using appropriate supplements) may prevent many of these complications. Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress. | ||
| Biotinidase Deficiency | ||
| Carnitine palmitoyltransferase I deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. People with this disorder have a faulty enzyme that disrupts carnitine's role in processing long-chain fatty acids. One of the main signs of this disorder is a low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in a loss of consciousness or seizures. | ||
| Carbamoyl Phosphate Synthetase I Deficiency | ||
| Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. CPS I deficiency often becomes evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. | ||
| Carnitine Palmitoyl Transferase Deficiency I (CPT I) | ||
| Carnitine palmitoyltransferase I deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. People with this disorder have a faulty enzyme that disrupts carnitine's role in processing long-chain fatty acids. One of the main signs of this disorder is a low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in a loss of consciousness or seizures. | ||
| Carnitine Palmitoyl Transferase Deficiency II (CPT II) | ||
| In Carnitine palmitoyl transferase II deficiency the acylcarnitines cannot be transported into the mitochondria for fatty acid oxidation. Thus, the need for generation of energy from fatty acids during fasting or increased demand (fever, stress) cannot be met. The neonatal form is associated with multiple congenital anomalies. | ||
| Carnitine/Acylcarnitine Translocase Deficiency (CACTD) | ||
| Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Infants with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Signs deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat, and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar is another major feature. Other signs that are often present include excess ammonia in the blood, an enlarged liver, heart abnormalities, and muscle weakness. This disorder can cause sudden infant death. | ||
| Carnitine Uptake Deficiency (CUD) | ||
| Carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and produce energy. In infants with primary carnitine deficiency, proteins called carnitine transporters do not work properly. These proteins normally bring carnitine into cells and prevent the escape of carnitine from the body in urine. Signs and symptoms of this disorder occur during infancy or early childhood and often include changes in brain tissue resulting in functional abnormalities; an enlarged, poorly pumping heart; confusion; vomiting; muscle weakness; and low blood sugar. Serious complications such as heart failure, liver problems, coma, and sudden unexpected death are also a risk. | ||
| Citrullinemia | ||
|
Type I (Arginosuccinate Synthetase Deficiency) Type II (Citrin Deficiency) |
||
| Citrullinemia is a rare inherited disorder caused by deficiency or lack of the enzyme argininosuccinate synthetase. Argininosuccinate synthetase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia, in the blood. Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma. | ||
| Congenital Adrenal Hyperplasia | ||
| Congenital adrenal hyperplasia is an inherited condition which causes an enzyme deficiency. The lack of this enzyme results in the inability of the adrenal glands, located on top of the kidneys, to make hormones (cortisol and aldosterone) necessary to maintain life. There are three forms of congenital adrenal hyperplasia: severe salt-wasting (lack of cortisol and aldosterone); non-salt wasting (lack of cortisol), and a milder form. An infant with the salt-wasting form may have vomiting, poor weight gain, poor feeding, drowsiness, diarrhea and dehydration. Without proper treatment, an infant can go into shock and die. Female infants with salt-wasting CAH have ambiguous genitals that will make the infant appear partially or very much like a male. The non-salt wasting form of CAH does not generally cause severe illness, and external genitals of female infants are also ambiguous. The milder form of CAH may appear anytime between early childhood and puberty. Ambiguous genitalia in females who may appear to be male with nonpalpable testes. At risk for life threatening adrenal crises, shock, and death in males and females. Finding could also be a false positive associated with stress or prematurity | ||
| Congenital Hypothyroidism | ||
| Congenital hypothyroidism is a condition where the thyroid gland does not make enough thyroid hormone. The most common cause of congenital hypothyroidism is the incorrect growth of the thyroid gland. The thyroid gland is a small butterfly-shaped gland located in the neck which uses iodine from the food we eat to make thyroid hormone. This hormone is known as thyroxine (T4). T4 is needed for normal growth and development. If congenital hypothyroidism is left untreated, it can lead to growth failure, mental retardation, deafness and other serious health problems. Most neonates are asymptomatic, though a few can manifest some clinical features, such as prolonged jaundice, puffy facies, large fontanels, macroglossia and umbilical hernia. Untreated congenital hypothyroidism results in developmental delay or mental retardation and poor growth. | ||
| Cystic Fibrosis | ||
| Cystic fibrosis (CF) is an autosomal recessive disorder and occurs because of a faulty gene involving a cell protein called cystic fibrosis transmembrane conductance regulator (CFTR). CF affects many organs in the body, in particular, progressive damage to the respiratory system and chronic digestive system problems. The body produces abnormally thick and sticky mucus obstructing the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and lung damage. Most people with CF also have digestive problems because of the thick, sticky mucus interfering with the function of the pancreas. Mucus blocks the ducts of the pancreas, preventing these enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, greasy, bulky stools, malnutrition, poor growth, and weight loss. CFTR regulates the movement of salt and water into and out of cells, when it does not work properly high levels of salt are found in the sweat. Confirming the diagnosis of CF is done using a sweat test, DNA studies or both. | ||
| Galactosemia | ||
| Galt Deficiency Galactokinase Deficiency Epimerase Deficiency |
||
| Galactosemia is an inherited condition caused by the lack of a liver enzyme needed to digest galactose. Galactose is a sugar used by the body for energy, but first enzymes must break it down. In most galactosemia, one enzyme is absent or insufficient. Since galactose cannot be broken down, it builds up in the cells and becomes toxic. Too much galactose and its metabolites can cause brain damage and serious health problems. If galactosemia is left untreated, it can lead to death. Signs include poor feeding, vomiting, jaundice and, sometimes, lethargy and/or bleeding. These signs will present in the first few days of life and may be fatal without treatment. | ||
| Glutaric Acidemia Type I (GAI) | ||
| Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. Infants with this disorder have inadequate levels of an enzyme that helps break down some of the amino acids, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain. Some individuals are only mildly affected, while others have severe problems. Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity or decreased muscle tone. Some individuals have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery. | ||
| Hearing Loss | ||
Hearing loss may be caused by abnormalities in the outer ear, middle ear and/or the inner ear. Congenital: Genetic forms of hearing loss must be carefully distinguished from acquired (non-genetic) causes of hearing loss. 50% of permanent hearing loss in infants is due to genetic causes; 50% are to environmental causes (see risk indicators below). Progressive, Delayed Onset or Acquired: Causes may be due to a genetic syndrome, in utero infection, postnatal infection, ototoxic medications, recurrent or persistant otitis media. |
||
| Hemoglobinopathies | ||
| Hemoglobinopathies are conditions that affect the kind and amount of hemoglobin a person has in their red blood cells. Hemoglobin is the part of the red blood cell that carries oxygen throughout the body and gives the red blood cell its color and shape. Sickle cell is an inherited condition that causes the red blood cells to misshape (sickle). These hard, pointed cells go through small blood vessels and clog and break apart. This causes pain, delayed growth, a low blood count (anemia) and other serious problems. Hemoglobinopathies can be found in all ethnic groups but more common in African Americans. | ||
| Homocystinuria | ||
| Homocystinuria is a deficiency of the enzyme, cystathionine β synthase and characterized by elevated levels of homocysteine, methionine, and metabolites of homocysteine in the blood and urine. Untreated, children have presented with failure to thrive, ocular abnormalities, scoliosis, chronic flushing of the face and “marfanoid” features. Many also have seizures and developmental delays. If left untreated, death can occur due to thromboembolic events. | ||
| Hypermethioninemia | ||
|
due to Glycine N-Methyltransferase Deficiency due to S-Adenosylhomocysteine Hydrolase Deficiency due to Methionine Adenosyltransferase Deficiency |
See OMIM → |
|
| The amino acid disorders included in the newborn screen are autosomal recessive disorders that are caused by a defect in a gene that produces an enzyme necessary for the metabolic pathway of a single amino acid or a group of amino acids. In most cases, these enzymes are active primarily in the liver. The pathophysiology results from the accumulation of toxic intermediates or secondary metabolites and, in some cases, deficiency of the product. | ||
| Hyperornithinemia | ||
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) with Gyral Atrophy |
See OMIM → |
|
| Hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome is a very rare inborn error of metabolism that varies widely in age of presentation and long-term prognosis. Growth and developmental delays, learning disabilities (especially speech delay), and periodic confusion and ataxia are typical presenting symptoms. A defect in the transport of ornithine into the mitochondrial matrix significantly inhibits the urea cycle, thereby impeding nitrogen disposal. Early detection and treatment may lead to favorable outcome. | ||
| Hyperphenylalaninemia (HyperPhe) | ||
| due to Phenylalanine Hydroxylase Deficiency due to GTP Cyclohydrolase I Deficiency due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency due to 6-Pyruvoyltetrahydropterin Synthase Deficiency Defects of biopterin co factor biosynthesis Defects of biopterin co factor regeneration |
See OMIM → |
|
| Phenylalanine is an amino acid (a building block of proteins) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, excess phenylalanine can build up to harmful levels in the body, causing mental retardation and other serious health problems. | ||
| Isobutyryl CoA Dehydrogenase Deficiency (IBCD) | ||
| Isobutyryl-coenzyme A (CoA) dehydrogenase deficiency is a rare disorder in which the body is unable to process certain proteins properly. Infants with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, a building block of proteins. Infants with this deficiency will likely be healthy at birth. The signs and symptoms of this disorder may not appear until later in infancy or childhood and can include poor feeding and growth, a weakened and enlarged heart, seizures, and low numbers of red blood cells. Another feature of this disorder may be very low blood levels of carnitine. It may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. | ||
| Isovaleric Acidemia (IVA) | ||
| Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. Infants with this disorder have inadequate levels of an enzyme that helps break down the amino acid leucine, a building block of proteins. A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. Signs and symptoms of this disorder can become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy that can progress to coma. These medical problems are typically severe and can be life-threatening. | ||
| Long Chain Hydroxyl AcylCoA Dehydrogenase Def. (LCHAD) | ||
|
Alpha Subunit Deficiency Beta Subunit Deficiency |
||
| Long Chain Hydroxy Acyl-coenzyme A dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with the disorder have inadequate levels of an enzyme required for a step that metabolizes a group of fats called long-chain fatty acids. Signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar, muscle weakness, liver problems, and abnormalities in the part of the eye that detects light and color. Problems can be triggered by periods of fasting or by illnesses such as viral infections. | ||
| Malonic Aciduria (MAL) | ||
| Malonic Aciduria is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone, seizures, diarrhea, vomiting, and low blood sugar. | ||
| Maple Syrup Urine Disease | ||
|
Type IA Type IB Type II |
||
| Maple Syrup Urine Disease is caused by a deficiency in an enzyme complex resulting in high body fluid (serum, urine, and spinal fluid) levels of leucine, isoleucine, valine and their corresponding ketoacids. Untreated, children may present within the first few days of life with poor appetite, irritability, hypoglycemia and the characteristic odor of maple syrup from the urine. Infants may gradually lose their sucking reflex and become listless, have a high-pitched cry, and become limp with episodes of rigidity (bicycling motion). Without early diagnosis and treatment, symptoms progress to seizure, coma and death. | ||
| Medium Chain AcylCoA Dehydrogenase Deficiency (MCAD) | ||
| MCAD deficiency is the most common fatty acid oxidation disorder, characterized by deficiency of the enzyme, medium chain Acyl-CoA dehydrogenase. MCAD deficiency impairs the body’s ability to convert dietary and endogenous fatty acids of medium chain length to energy. Crisis is usually triggered by prolonged fasting or infection. During the first crisis children have presented with metabolic acidosis, persistent vomiting, hypoglycemia, lethargy, apnea, coma, cardiopulmonary arrest, or sudden unexplained death. It is imperative to identify a child with this disease so that crisis can be prevented. | ||
| Methylmalonic Acidemia (MMA) | ||
|
due to Methylmalonyl-CoA Mutase Deficiency due to Deficient Synthesis of 5-Prime-Deoxyadenosylcobalamin due to Defects in the MMAA Gene with B12 Defect and Homocystinuria |
||
| Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats properly. The effects, which usually appear in early infancy, vary from mild to life-threatening. Affected infants experience vomiting, dehydration, weak muscle tone, excessive tiredness, and failure to gain weight and grow at the expected rate. Long-term complications can include feeding problems, mental retardation, chronic kidney disease, and inflammation of the pancreas. Without treatment, this disorder can lead to coma and death in some cases. | ||
| Mitochondrial Acetoacetyl CoA Thiolase Def (Beta Ketothiolase /SKAT) | ||
| Beta-ketothiolase deficiency is an uncommon inherited disorder in which the body cannot properly process a particular amino acid (a building block of proteins) or the products of fat breakdown. The signs and symptoms of beta-ketothiolase deficiency include vomiting, dehydration, trouble breathing, extreme tiredness, and occasionally convulsions. These episodes are called ketoacidotic attacks and can sometimes lead to coma. These attacks are often triggered by an infection, fasting (not eating), or in some cases, other types of stress. | ||
| Multiple AcylCoA Dehydrogenase Deficiency (MADD or GAII) | ||
| due to Electron Transfer Flavoprotein Alpha Subunit Deficiency due to Electron Transfer Flavoprotein Beta Subunit Deficiency due to Electron Transfer Flavoprotein Dehydrogenase Deficiency |
608053 130410 231675 |
|
| Glutaric acidemia type II (GAII) is an inherited disorder that interferes with the body's ability to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis. It often appears in infancy as a sudden metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes, and vomiting. There may also be enlargement of the liver, heart failure, and a characteristic odor resembling that of sweaty feet. Some infants have birth defects, including multiple fluid-filled growths in the kidneys. | ||
| Multiple CoA Carboxylase Deficiency (MCD) | ||
| Multiple CoA Carboxylase Deficiency is a genetic metabolic disorder that leads to impaired activity of three enzymes that are dependent on the vitamin biotin. This condition results from a defect in cellular biotin transport or metabolism. Symptoms of the disorder include acidity of the blood and body tissues (acidosis), a widespread red skin rash, baldness, and slowed physical development. The disorder occurs in both a neonatal and a late-onset form and is treatable. | ||
| Nonketotic Hyperglycinemia (NKH) | ||
|
due to Glycine Cleavage System H Protein Deficiency due to Aminomethyltransferase Deficiency due to Glycine Decarboxylase Deficiency |
||
| Nonketotic hyperglycinemia is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF). The metabolic block occurs in the conversion of glycine into smaller molecules. There are four forms of this disorder: a relatively common neonatal form, an infantile form, a mild-episodic form, and a late-onset form. | ||
| Phenylketonuria (PKU) | ||
| PKU is an inherited group of disorders in which the body’s normal processing of the essential amino acid, phenylalanine, is disrupted. The clinical effects of untreated classical PKU are developmental delay and mental retardation, usually noticeable within the first 6 months. Seizures, microcephaly, behavioral disturbances, a noxious odor (urine/sweat) and eczema-like rashes may be seen after infancy. | ||
| Propionic Acidemia (PROP) | ||
|
due to Propionyl-CoA Carboxylase AlphaSubunit Deficiency due to Propionyl-CoA Carboxylase Beta Subunit Deficiency |
||
| Propionic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats) properly. The condition, which usually appears in early infancy, is characterized by poor feeding, vomiting, weak muscle tone (hypotonia), and lethargy. The effects of propionic acidemia can be life-threatening. | ||
| Short Chain AcylCoA Dehydrogenase Deficiency (SCAD) | ||
| Short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency is a rare condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). People with this disorder are not able to break down a certain group of fats called short-chain fatty acids efficiently. Some affected infants will exhibit vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delays, and a small head size (microcephaly). The symptoms may be triggered by periods of fasting or during illnesses such as viral infections. | ||
| Trifunctional Protein Deficiency | ||
|
Alpha Subunit Deficiency Beta Subunit Deficiency |
||
| Trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Infants with mitochondrial trifunctional protein deficiency have inadequate levels of an enzyme required to metabolize a group of fats called long-chain fatty acids. Signs and symptoms that occur during infancy include feeding difficulties, lack of energy , low blood sugar, muscle weakness, and liver problems. Infants with this disorder are also at high risk for complications such as life-threatening heart and breathing problems, coma, and sudden unexpected death. | ||
| Tyrosinemia | ||
|
Type II Type III |
||
| Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. It is caused by the shortage of one of the enzymes required to break down tyrosine. If untreated, tyrosine and its byproducts build up in tissues and organs, which leads to serious medical problems. There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme. | ||
| Very Long Chain AcylCoA Dehydrogenase Deficiency (VLCAD) | ||
| Very long-chain acyl-CoA dehydrogenase deficiency is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly. VLCAD is one of the metabolic diseases known as fatty acid oxidation diseases. | ||
Video
"Let's Do it Right the First Time"
A Self-Instructional CD-ROM for Practitioners
This course for practitioners presents information about the disorders, techniques needed to properly collect blood specimens that are acceptable for the laboratory screening process, hearing screening information and the newborn screening follow up programs duties. It has been updated from the video of the same name that was published in 2001 and includes many features not available in the video format. Continuing Education credits are available for nurses through the Tennessee Nursing Association and for laboratorians through the P.A.C.E. © program. Distributed in September, 2007. There will be no charge to Tennessee practitioners for the CD.
For ordering information, email anakay.yaghoubian@aphl.org or call 240-485-2708 (9:00-5:00 Eastern).
Genetics Network
Genetic/Metabolic Centers
- University of Tennessee
1930 Alcoa Highway
Medical Building A, Suite 435
Knoxville, TN 37920
(865) 544-9030
(800) 325-3894 (Toll Free) - University of Tennessee Memphis
Division of Medical Genetics
Boling Center for Developmental Disabilities
711 Jefferson Avenue
Memphis, TN 38105
(901) 448-6595
(888) 572-2249 (Toll Free)
(901) 448-4677 TDD - Vanderbilt University Medical Center
Division of Medical Genetics
DD-2205 Medical Center North
Nashville, Tennessee 37232-2578
(615) 322-7601
Satellite Genetic Centers
- East Tennessee State University
Medical Genetics Center
325 N. State of Franklin
Johnson City, TN 37604
(423) 439-8541 - T.C. Thompson Children's Hospital
Division of Medical Genetics
910 Blackford Street
Chattanooga, TN 37403
(423) 778-6112
Hematology Centers
- Meharry Medical College
Meharry Sickle Cell Center 2nd Floor
1005 Dr. D.B. Todd Jr. Boulevard
Nashville, TN 37208
(615) 327-6763
Email: sickle_cell@mmc.edu - St. Jude Children's Research Hospital
Comprehensive Sickle Cell Center
Department of Hematology
332 N. Lauderdale - MS 800
Memphis, TN 38105
(901) 595-5670
(866) 269-6536 (Toll Free) - T.C. Thompson Children’s Hospital
Pediatric Hematology
910 Blackford Street
Chattanooga, TN 37403
(423) 778-7289 - University of Tennessee
1930 Alcoa Highway
Medical Building A, Suite 435
Knoxville, TN 37920
(865) 544-9030
(800) 325-3894 (Toll Free)
Pediatric Endocrinologists
- East Tennessee Children's Hospital
Pediatric Endocrinology
2100 West Clinch Avenue, Suite 140
Knoxville, TN 37916
(865) 971-7400 - East Tennessee State University
Pediatric Endocrinology
325 N. State of Franklin
Johnson City, TN 37604
(423) 439-7320 - Endocrine Clinic, P.C.
5659 South Rex Road
Memphis, TN 38119
(901) 763-3636 - Jackson Pediatric Center, Endocrinology
37 Sandstone Circle
Jackson, TN 38305
(731) 664-9928 - T.C. Thompson Children's Hospital
Division of Pediatric Endocrinology
910 Blackford Street
Chattanooga, TN 37403
(423) 778-6112 - U. T. Medical Group, Inc.
Division of Pediatric Endocrinology
777 Washington Avenue, Suite P110
Memphis, TN 38105
(901) 287-5096
- Monroe Carell Jr. Children's Hospital at Vanderbilt
11136 Doctors Office Tower
2200 Children's Way
Nashville, TN 37232-9170
(615) 322-7427
Cystic Fibrosis Centers
- University of Tennessee College of Medicine Le Bonheur Children’s Medical Center
777 Washington Ave
Memphis, TN 38105
(901) 287-5222 - Vanderbilt University Medical Center
Division of Pediatric Pulmonary, Allergy, and Immunology
2200 Children's Way
11215 Doctors' Office Tower
Nashville, TN 37232-9500
(615) 343-7617 - East Tennessee Children’s Hospital
Pediatric Pulmonology
2100 Clinch Avenue
MOB Suite 310
Knoxville , TN 37916
(865) 637-8481/541-8698 - T.C. Thompson Children's Hospital
Division of Pediatric Pulmonology
910 Blackford Street
Chattanooga, TN 37403
(423) 778-6501
Outreach Clinics
For additional information or Outreach Clinics, please refer to the GeneTests Clinical Directory for Tennessee.
Governor Bill Haslam
Follow Us On
