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

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Description

2-Aminoadipic 2-oxoadipic aciduria is an inherited disorder caused by a deficiency of the enzyme 2-aminoadipic acid oxidase. This enzyme is responsible for breaking down the amino acid 2-aminoadipic acid, which is a precursor to the amino acid lysine. Without this enzyme, 2-aminoadipic acid accumulates in the body, leading to a buildup of 2-oxoadipic acid in the urine. Symptoms of this disorder include intellectual disability, seizures, and poor growth. Treatment typically involves dietary management and supplementation with lysine.

Synonyms
  • 2-aminoadipic 2-oxoadipic aciduria
  • alpha-aminoadipic aciduria
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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