isovalericacidemia

isovalericacidemia

/iso·va·ler·ic·ac·i·de·mia/ (i″so-vah-ler″ik-as″ĭ-de´me-ah) an aminoacidopathy due to a defect in the pathway of leucine catabolism, characterized by elevated levels of isovaleric acid in the plasma and urine, causing a characteristic odor of sweaty feet, severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, psychomotor retardation, and in severe cases coma and death.
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