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.