Myoadenylate deaminase deficiency

Jack B. Shumate, Richard Katnik, Martha Ruiz, Kenneth Kaiser, Carl Frieden, Michael H. Brooke, James E. Carroll

Research output: Contribution to journalArticlepeer-review

61 Scopus citations

Abstract

Myoadenylate deaminase (adenosine monophosphate deaminase—AMPDA) was recently shown to be deficient in a group of patients by use of a histochemical and biochemical method based on the elaboration of ammonia by this enzyme as it deaminates 5′ AMP. We have confirmed the utility of this histochemical method and the existence of persons deficient in AMPDA through the use of an unrelated assay technique. The lack of enzyme activity is not associated with any inhibitory activity in the muscles of patients with this disorder. The clinical diversity of these patients suggests that this lack may represent a normal variant or a subclinical state rather than an actual disease. The occurrence of AMPDA deficiency in both sexes points to possible autosomal inheritance.

Original languageEnglish (US)
Pages (from-to)213-216
Number of pages4
JournalMuscle & Nerve
Volume2
Issue number3
DOIs
StatePublished - Jan 1 1979
Externally publishedYes

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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