title: Isovaleric acidaemia in two South African children.
abstract: Two siblings who were repeatedly admitted to hospital with acute episodes of vomiting, dehydration and coma were found to be suffering from isovaleric acidaemia. This condition is a rare inherited abnormality of leucine metabolism, which is frequently fatal in the early weeks of life and leads to mental retardation in a high proportion of those who survive early attacts. However, both our patients were of normal intelligence. The clinical presentation, biochemical defect, diagnosis and suggested therapies are reviewed.
mesh_terms: D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine; D002675:Child, Preschool; D004151:Dipeptides / Q000652:urine; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012075:Remission, Spontaneous; D013019:South Africa; D014631:Valerates / Q000097:blood* / Q000652:urine
chemical_list: D004151:Dipeptides; D014631:Valerates