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Next Term: isovaleryl coA dehydrogenase
isovaleric acidemia
Used for:
isovaleryl coA dehydrogenase deficiency
Broader Terms:
enzyme deficiency
Broader Terms:
inborn aminoacid metabolism disorder
Related Terms:
autosomal recessive trait
Related Terms:
ketotic hyperglycinemia
Scope Note:
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.
Term Number:
1849-0949
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