isovaleric acidemia; isovaleryl-CoA dehydrogenase deficiency
Jump to navigation
Jump to search
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