Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy.
Two adult non-identical twins with autosomal recessive olivopontocerebellar degeneration (OPCA) had markedly deficient adenylate deaminase in skeletal muscle homogenates. Ischemic exercise failed to increase the blood ammonia, while lactate increased normally. Glutamate dehydrogenase and NADP-dependent malic enzyme activities in muscle mitochondria of both patients were normal. The significance of adenylate deaminase deficiency in these twins with OPCA is discussed.
D000659:AMP Deaminase / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D001284:Atrophy; D001927:Brain Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D002526:Cerebellar Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004200:Diseases in Twins / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005080:Exercise Test; D005260:Female; D005808:Genes, Recessive; D006651:Histocytochemistry; D006801:Humans; D009132:Muscles / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D009847:Olivary Nucleus; D011149:Pons
D009709:Nucleotide Deaminases; D000659:AMP Deaminase