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skos:definition |
CSP: 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.,NCI: A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.
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