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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
ASL deficiency

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Argininosuccinic aciduria (ASA) is an inherited disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is responsible for breaking down the amino acid arginine into citrulline and aspartic acid. Without this enzyme, argininosuccinic acid builds up in the body, leading to a variety of symptoms. These include poor growth, vomiting, seizures, and intellectual disability. In some cases, the disorder can be fatal. Treatment for ASA typically involves a low-protein diet and supplementation with citrulline and arginine. In some cases, a liver transplant may be necessary.

  • argininosuccinase deficiency
  • argininosuccinate lyase deficiency
  • argininosuccinic acid lyase deficiency
  • argininosuccinic aciduria
  • ASAL deficiency
Basic Lab Tests (measurements)

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