isovaleric acidemia

An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.

Signs and symptoms

• Elevated urinary isovalerylglycine level
• Sweaty foot-like odor
• Lethargy
• Ketoacidosis
• Decreased total leukocyte count
• Vomiting
• Seizure
• Global developmental delay
• Increased circulating isovaleric acid concentration
• Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts

Also known as: Isovaleryl-CoA dehydrogenase deficiency; isovaleric acid CoA dehydrogenase deficiency; isovaleric aciduria