Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy

G. Uziel, F. Cornelio, C. Gellera, G. Perego, M. Rimoldi, S. Di Donato

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)107-112
Number of pages6
JournalItalian Journal of Neurological Sciences
Volume7
Issue number1
DOIs
Publication statusPublished - Feb 1986

Keywords

  • adenylate deaminase
  • glutamate dehydrogenase
  • Olivopontocerebellar atrophy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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