Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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AMP Deaminase / deficiency*
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AMP Deaminase / genetics
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Adult
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Atrophy
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Brain Diseases / enzymology
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Brain Diseases / genetics
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Brain Diseases / pathology
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Cerebellar Diseases / enzymology
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Cerebellar Diseases / genetics*
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Cerebellar Diseases / pathology
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Diseases in Twins / enzymology
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Diseases in Twins / genetics*
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Diseases in Twins / pathology
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Exercise Test
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Female
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Genes, Recessive*
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Histocytochemistry
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Humans
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Muscles / enzymology
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Muscles / metabolism
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Muscles / pathology
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Nucleotide Deaminases / deficiency*
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Olivary Nucleus*
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Pons*
Substances
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Nucleotide Deaminases
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AMP Deaminase