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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
3-methylglutaconic aciduria

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3-Methylglutaconic aciduria is an inherited disorder caused by a deficiency in the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is responsible for breaking down certain fatty acids and amino acids in the body. When this enzyme is deficient, the body is unable to properly break down these substances, leading to the buildup of 3-methylglutaconic acid in the body. Symptoms of this disorder can include developmental delays, seizures, and muscle weakness. Treatment typically involves dietary modifications and supplementation with certain vitamins and minerals.

  • MGCA
Basic Lab Tests (measurements)

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