Children and Youth with Special Health Needs (CYSHN)Amino Acid (AA) Disorders |
What are amino acid disorders?
Amino acid disorders (AA disorders) cause the body to have problems breaking down certain proteins. The body breaks down, or metabolizes, food. The food is changed into nutrients they body can use, and the body gets rid of the chemicals it does not need. Enzymes (chemicals that do jobs in the body) usually help break down food. A person who has an AA disorder is missing a specific enzyme, or the enzyme is not working as well as it should. This prevents the body from breaking down protein in food, and toxic chemicals build up in the body. The build up of toxic chemicals can cause serious damage to organs. Each enzyme deficiency causes a different AA disorder. A special diet and medication can prevent most problems.
What causes AA disorders?
AA disorders are inherited when both parents pass an abnormal AA gene to their child. This means both parents are carriers of a particular AA disorder. Carriers do not experience any health problems related to the AA disorder. When two carriers of a particular AA disorder have children together, there is a 1 in 4 (25%) chance for each baby to have the AA disorder.
How are AA disorders detected?
Newborn screening is done on tiny samples of blood taken from the infant's heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has an AA disorder.
What problems can AA disorders cause?
An AA disorder is different for each child. Untreated AA disorders can cause vomiting, eye problems, liver problems, mental retardation, and possibly coma or death. It is extremely important to follow the doctor's instructions about caring for a child with an AA disorder
What is the treatment for AA disorders?
AA disorders can be treated. People with AA disorders should not eat certain proteins that the body has trouble breaking down. Medication may help the body get rid of harmful toxins. The treatment is life-long.
For children who have an AA disorder:
- The child should have a primary care doctor, a pediatric metabolic specialist, and a dietician. These health professionals give the child good medical care and educate the family about the special diet.
- Families are taught to read labels carefully when shopping for food.
Treatment for an AA disorder is life-long, and a child with an AA disorder should see a doctor regularly.
What happens after diagnosis?
Nurses/staff from MDH work closely with families and your child's doctors to provide information about:
- Financial assistance for medical care
- Early childhood school programs
- Visits from public health nurses
- Your child's medical condition
- Parent support groups
- Special needs daycare
- And many other resources
Please call if you have any question about your child.
Resources
Organic Acidemia Association:
www.oaanews.org
(763) 559-1797 or (866) 539-4060
National Organization for Rare Disorders:
www.rarediseases.org
(203) 744-0100 or (800) 999-6673
Children and Youth with Special Health Needs:
www.health.state.mn.us/mcyshn
(651) 201-3650 or (800) 728-5420
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If you have questions or comments about this page, please contact Children and Youth with Special Health Needs at health.cyshn@state.mn.us
