title: Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.
abstract: Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.
mesh_terms: D000138:Acidosis / Q000209:etiology*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics*; D003128:Coma / Q000209:etiology; D005260:Female; D006801:Humans; D007360:Intelligence; D007662:Ketosis / Q000209:etiology*; D014631:Valerates / Q000097:blood*; D014839:Vomiting / Q000209:etiology
chemical_list: D014631:Valerates