Argininosuccinic aciduria


How do I find a center of excellence in argininosuccinic aciduria?

There are medical clinics and genetic clinics around the United States that can help people with metabolic disorders like argininosuccinic aciduria. The National Urea Cycle Disorders Foundation may be able to help you find a clinic or physician treating argininosuccinic aciduria near you. The Genetics and Rare Diseases Information Center has information on how to find a disease specialist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

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What doctors do I need to see to manage and treat argininosuccinic aciduria?

What doctors do I need to see to manage and treat argininosuccinic aciduria?

Rare diseases that affect multiple organ systems like argininosuccinic aciduria can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Some people with argininosuccinic aciduria are asymptomatic, which means that they do not develop symptoms.

If symptoms do develop, then, depending upon the specific symptoms in an individual, a multidisciplinary team may include a specialist for neurological disorders in children (pediatric neurologist) who will monitor the function and health of the brain and central nervous system; a neurologist; a specialist who will monitor the health and function of the liver (hepatologist); a metabolic dietitian who will coordinate the nutritional management of people with metabolic diseases; a nutritionist who can help to develop a special diet; a genetic counselor who can help people understand the disease and the implications for the person and other family members; and a metabolic disease specialist.


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