| isovaleric acid |
a carboxylic acid occurring in excess in the plasma and urine in isovalericacidemia.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| isovalericacidemia |
an 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. Two clinical forms, possibly allelic, exist: the acute neonatal form leads rapidly to coma and death; the chronic intermittent form is milder and usually of later onset, with acute episodic attacks and variable psychomotor dysfunction.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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