Children and Youth with Special Health Needs (CYSHN)Organic Acid Disorders |
What are organic acidemias?
Organic acidemias (acid-ee-me-ahs) cause the body to have problems breaking down certain proteins. The body breaks down, or metabolizes, food. The food is changed into nutrients the 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 organic acidemia 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 can cause serious damage to organs. Each enzyme deficiency causes a different organic acidemia. A special diet and medication can prevent most problems.
What causes organic acidemias?
Organic acidemias are inherited when both parents pass an abnormal organic acidemia gene to their child. This means both parents are carriers of a particular organic acidemia. Carriers do not experience any health problems related to the organic acidemia. When two carriers of a particular organic acidemia have children together, there is a one in four (25%) chance for each child to have that organic acidemia.
How are organic acidemias 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 organic acidemia.
What problems can organic acidemias cause?
An organic acidemia is different for each child. Untreated organic acidemias can cause vomiting, feeding difficulties, liver and kidney problems, mental retardation, and possibly death. It is extremely important to follow the doctor's instructions about caring for a child with an organic academia.
What is the treatment for organic acidemias?
Organic acidemias can be treated. People with organic acidemias should not eat certain proteins that the body has trouble breaking down. Medications may help the body get rid of harmful toxins. The treatment is life-long.
For children who have an organic acidemia:
- 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 organic acidemia.
- Families are taught to read labels carefully when shopping for food.
- Treatment for an organic acidemia is life-long, and a child with an organic acidemia 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 Foundation:
www.oaanews.org
(763) 559-1797 or (866) 539-4060
National Organization for Rare Diseases:
www.rarediseases.org
(203) 744-0100 or (800) 999-6673
National Information Centre for Metabolic Disease:
www.climb.org.uk
(800) 652-3181
MN 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
