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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
3-KTD deficiency

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Description

Alpha-methylacetoacetic aciduria is an inherited metabolic disorder caused by a deficiency of the enzyme alpha-methylacetoacetic acid (AMAA) dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine, which is found in many foods. When the enzyme is deficient, leucine is not broken down properly and accumulates in the body, leading to a buildup of alpha-methylacetoacetic acid in the urine. Symptoms of alpha-methylacetoacetic aciduria include poor growth, intellectual disability, seizures, and behavioral problems. Treatment typically involves dietary modifications and supplementation with leucine and other amino acids.

Synonyms
  • 2-methyl-3-hydroxybutyric acidemia
  • 3-ketothiolase deficiency
  • 3-oxothiolase deficiency
  • alpha-methylacetoacetic aciduria
  • beta-ketothiolase deficiency
  • mitochondrial acetoacetyl-CoA thiolase deficiency
  • T2 deficiency
Basic Lab Tests (measurements)

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