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isovaleric acidemia
[autosomal recessive aminoacidopathy due to deficiency of isovaleryl-CoA dehydrogenase, with elevated plasma isovaleric acid and urinary isovaleric acid and isovalerylglycine, causing a characteristic odor of sweaty feet; clinical signs include severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, thrombocytopenia, neutropenia, and pancytopenia. ( CSP )]
UMLS (CSP) C0268575- Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors
enzyme deficiency
enzyme deficiency
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