Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
A small group of inborn errors of metabolism are manifested by intermittent cerebellar ataxia. We have previously reported a family with an inherited metabolic defect resulting in multiple carboxylase deficiencies which were responsive to pharmacological doses of biotin. Affected children presented with a skin rash, infections, acute intermittent ataxia, and lactic acidosis. Two affected siblings died prior to diagnosis and therapy, and a detailed postmortem examination was performed on one of them. The brain was characterized by atrophy restricted to the superior vermis of the cerebellum, a finding strikingly similar to that found in chronic alcoholism. Intermittent ataxia would suggest a potentially treatable metabolic disease, and clinical evaluation should include studies of intermediary metabolism and immune function.
D001710:Biotin / Q000627:therapeutic use*; D002262:Carboxy-Lyases / Q000172:deficiency*; D002524:Cerebellar Ataxia / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology*; D007223:Infant; D008297:Male
D001710:Biotin; D002262:Carboxy-Lyases