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isovaleric acidemia; isovaleryl-CoA dehydrogenase deficiency
Genetics:
- associated with defects in IVD
Clinical manifestations:
- retarded psychomotor development
- a peculiar odor resembling sweaty feet
- an aversion to dietary protein
- pernicious vomiting, leading to acidosis & coma
- the acute neonatal form leads to massive metabolic acidosis from the first days of life & rapid death
Laboratory:
- IVD gene mutation
General
branched-chain organic aciduria
enzyme deficiency
Database Correlations
OMIM 243500
References
- UniProt :accession P26440
- OMIM :accession 243500