Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.
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.
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
D014631:Valerates