Isovalericacidemia: a case report.
Aminoacidopathies are rare metabolic defects that frequently present shortly after birth or in early infancy with vomiting, dehydration, ketoacidosis, and a peculiar body odor. If not recognized early, these can result in developmental retardation and/or death. A case of isovalericacidemia is reported to emphasize the importance of metabolic screening when an infant presents with the above-mentioned symptoms along with an anion gap greater than 20 mEq/liter. In our patient, a metabolic disorder was suggested by the clinical presentation and was confirmed by measuring elevated levels of biproducts. The infant was given a low-leucine diet and has developed normally since then.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010808:Physical Examination; D014631:Valerates / Q000097:blood*
D014631:Valerates