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. 1980 Dec;66(6):1419–1423. doi: 10.1172/JCI109995

Disruption of the Purine Nucleotide Cycle

A POTENTIAL EXPLANATION FOR MUSCLE DYSFUNCTION IN MYOADENYLATE DEAMINASE DEFICIENCY

Richard L Sabina 1,2,3,4, Judith L Swain 1,2,3,4, Bernard M Patten 1,2,3,4, Tetsuo Ashizawa 1,2,3,4, William E O'Brien 1,2,3,4, Edward W Holmes 1,2,3,4
PMCID: PMC371628  PMID: 7440723

Abstract

A patient with symptoms of easy fatigability, postexercise myalgias, and delayed recovery of muscle strength after activity is described. Skeletal muscle from this patient had <1.0% normal myoadenylate deaminase activity and NH3 was not released from muscle after ischemic exercise. In association with this enzyme deficiency, exercise led to a >90% reduction in muscle content of adenine nucleotides. No inosine monophosphate accumulated after exercise and total purine content of the muscle fell to 21% of control. Repletion of the adenine nucleotide pool in this patient was delayed compared to controls, and ATP content had only returned to 68% of control at 165 min after exercise. These studies demonstrate that disruption of the purine nucleotide cycle as a consequence of myoadenylate deaminase deficiency results in marked alterations in ATP content of muscle, and potentially, these changes in ATP content could account for muscle dysfunction in this patient.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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