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 journalArticle

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

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Olivopontocerebellar Atrophies
AMP Deaminase
malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+)
Glutamate Dehydrogenase (NADP+)
Muscle Mitochondrion
Ammonia
Lactic Acid
Skeletal Muscle
Exercise

Keywords

  • adenylate deaminase
  • glutamate dehydrogenase
  • Olivopontocerebellar atrophy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy. / Uziel, G.; Cornelio, F.; Gellera, C.; Perego, G.; Rimoldi, M.; Di Donato, S.

In: Italian Journal of Neurological Sciences, Vol. 7, No. 1, 02.1986, p. 107-112.

Research output: Contribution to journalArticle

Uziel, G. ; Cornelio, F. ; Gellera, C. ; Perego, G. ; Rimoldi, M. ; Di Donato, S. / Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy. In: Italian Journal of Neurological Sciences. 1986 ; Vol. 7, No. 1. pp. 107-112.
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