Argininemia

Healthcare/Doctors

How do I find a center of excellence in argininemia?

There are medical clinics around the U.S. and genetic clinics that can help people with metabolic disorders like argininemia. The National Urea Cycle Disorders Foundation may be able to help you find a clinic or physician treating argininemia near you. A medical geneticist and metabolic nutrtionist will be helpful for you. 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.The Genetics and Rare Diseases Information Center has information on how to find a disease specialist.

References
  • How to Find a Disease Specialist. The Genetics and Rare Diseases Information Center website. https://rarediseases.info.nih.gov/guides/pages/25/how-to-find-a-disease-specialist
  • The American College of Medical Genetics Clinic Services Search Engine. The American College of Medical Genetics and Genomics website. https://www.acmg.net/
  • The National Urea Cycle Disorders Foundation website
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What doctors do I need to see to manage and treat argininemia?

What doctors do I need to see to manage and treat argininemia?

Rare diseases that affect multiple organ systems like argininemia 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. According to the medical literature, infants who were diagnosed and treated at birth have gone symptom-free for their lives with one person more than 35 years old.

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.

References

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