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Rapid Publication Free access | 10.1172/JCI109995

Disruption of the Purine Nucleotide Cycle: A POTENTIAL EXPLANATION FOR MUSCLE DYSFUNCTION IN MYOADENYLATE DEAMINASE DEFICIENCY

Richard L. Sabina, Judith L. Swain, Bernard M. Patten, Tetsuo Ashizawa, William E. O'Brien, and Edward W. Holmes

Howard Hughes Medical Institute Laboratories and Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

Howard Hughes Medical Institute Laboratories and Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030

Find articles by Sabina, R. in: PubMed | Google Scholar

Howard Hughes Medical Institute Laboratories and Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

Howard Hughes Medical Institute Laboratories and Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030

Find articles by Swain, J. in: PubMed | Google Scholar

Howard Hughes Medical Institute Laboratories and Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

Howard Hughes Medical Institute Laboratories and Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030

Find articles by Patten, B. in: PubMed | Google Scholar

Howard Hughes Medical Institute Laboratories and Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

Howard Hughes Medical Institute Laboratories and Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030

Find articles by Ashizawa, T. in: PubMed | Google Scholar

Howard Hughes Medical Institute Laboratories and Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

Howard Hughes Medical Institute Laboratories and Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030

Find articles by O'Brien, W. in: PubMed | Google Scholar

Howard Hughes Medical Institute Laboratories and Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

Howard Hughes Medical Institute Laboratories and Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030

Find articles by Holmes, E. in: PubMed | Google Scholar

Published December 1, 1980 - More info

Published in Volume 66, Issue 6 on December 1, 1980
J Clin Invest. 1980;66(6):1419–1423. https://doi.org/10.1172/JCI109995.
© 1980 The American Society for Clinical Investigation
Published December 1, 1980 - Version history
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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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