Medical information you need to know as an adult with argininosuccinic acidemia
Overview of the Condition:
Argininosuccinic acidemia is a rare metabolic condition in which a chemical called argininosuccinate lyase (ASL) doesn’t work correctly in your body. This can cause ammonia to build up in your blood over time. When ammonia builds up too much, it can cause serious health problems. You can manage argininosuccinic acidemia throughout your life with a special low-protein diet, a special medical formula, drug therapy, and ongoing health care.
Other names for argininosuccinic acidemia are: argininosuccinic aciduria, argininosuccinic acid lyase deficiency, argininosuccinate lyase deficiency, ASL deficiency, and argininosuccinase deficiency.
Medical Problems for Babies and Children:
- If argininosuccinic acidemia goes undetected, babies and children may have: extreme sleepiness, irritability, vomiting, poor appetite, trouble with breathing or body temperature, unusual body movements, seizures, or coma. These symptoms can be triggered by eating a lot of protein, or after an illness or surgery, or by steroid medication.
- If untreated, developmental problems for babies and children with argininosuccinic acidemia can include: delayed growth, learning delays, liver damage, skin lesions, or brittle hair.
- Newborns in some US states are now tested for argininosuccinic acidemia. If the condition is identified early and treatment and diet are followed carefully, health problems can be prevented or lessened.
Medical Problems for Teens and Young Adults:
- Teens and young adults with argininosuccinic acidemia may have learning disabilities.
- Some may have high blood pressure or liver disease.
- If you have an illness, fever, surgery, or are pregnant, contact your health care provider right away.
- Watch for signs of ammonia build-up including: nausea, vomiting, sleepiness, or unusual problems with your mood or thinking. If you have any of these, get medical care right away.
- Some teens and young adults with argininosuccinic acidemia have anxiety or depression. Counseling and medication can help. If you have anxiety or depression, it is important to get in touch with your health care provider to get treatment.
How to Minimize Medical Problems and Complications:
- Follow a low-protein diet recommended by your dietician.
- Take medical formula and drug therapies recommended by your health care providers.
- Avoid steroids in medication or supplements.
- Avoid medicines that contain valproic acid, including Depakote®. Check with your doctor to find out which other medicines contain valproic acid.
- Avoid medicines that are not recommended for people with liver disease.
- Keep your immunizations up-to-date.
- Stay in regular contact with your health care providers and health specialists.
- Keep an Acute Illness Protocol that you can bring with you to the emergency room:
Fertility and Pregnancy:
- Argininosuccinic acidemia does not affect your ability to have children.
- Genetic counseling can help you and your partner understand the risks to your children. Your doctor can refer you to a genetic counselor who has a special understanding of your health issues.
- Pregnant women with argininosuccinic acidemia must follow a careful diet with special guidance from a dietician and health care providers.
How To Get Support:
- Get education support from teachers and specialists at your school.
- Join a support group with people who have argininosuccinic acidemia or similar metabolic conditions. This group of health conditions is called urea cycle disorders.
- A lot of research is being done on argininosuccinic acidemia and other urea cycle disorders. Get up-to-date information about new treatments and discoveries at the Urea Cycle Foundation website: http://nucdf.org/
AAP/AAFP/ACP Transition Clinical Report
Transition Toolkit (New England Consortium of Metabolic Programs)
National Urea Cycle Disorders Foundation
Acute Illness Protocol for Argininosuccinic Acidemia
National Institutes of Health – Genetics Home Reference – Argininosuccinic Acidemia
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This Metabolic Condition Basics guide was adapted with permission from the American College of Medical Genetics ACT Sheet