Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.
Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases. Acetazolamide gave a temporary clinical and biochemical improvement in two cases.
D000086:Acetazolamide / Q000627:therapeutic use*; D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007773:Lactates / Q000378:metabolism; D019344:Lactic Acid; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D011773:Pyruvates / Q000378:metabolism*; D019289:Pyruvic Acid; D013577:Syndrome; D014960:X Chromosome
D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid; D000086:Acetazolamide