Myogenic hyperuricemia: What can we learn from metabolic myopathies?
Article first published online: 13 OCT 2004
Copyright © 1995 John Wiley & Sons, Inc.
Muscle & Nerve
Supplement: Muscle & Nerve
Volume 18, Issue Supplement 14, pages S75–S81, 1995
How to Cite
Mineo, I. and Tarui, S. (1995), Myogenic hyperuricemia: What can we learn from metabolic myopathies?. Muscle Nerve, 18: S75–S81. doi: 10.1002/mus.880181416
- Issue published online: 13 OCT 2004
- Article first published online: 13 OCT 2004
- purine nucleotide;
- AMP deaminase
The association of muscle glycogenosis with hyperuricemia led to the identification of a unique purine disorder. Myogenic hyperuricemia is ascribed to excessive degradation of muscle purine nucleotides, secondary to impaired ATP generation. Although this pathophysiological condition has been observed not only in glycolytic defects but also in mitochondrial diseases affecting lipid and carbohydrate oxidation, it is most common and prominent in muscle phosphofructokinase deficiency, in which neither glycogen nor glucose can be used as metabolic fuels. The first key reaction of muscle purine degradation is catalysis by AMP deaminase. Numerous studies have indicated that AMP deaminase may play an important role in energy metabolism in contracting muscle. Arguments against this hypothesis have emerged through analyses on muscle AMP deaminase deficiency. According to a recent study, the mutant allele is extremely frequent among Caucasians and African-Americans, suggesting that many individuals with this enzyme defect may be clinically asymptomatic. Further study is required to explain the significance of muscle purine degradation in energy metabolism. © 1995 John Wiley & Sons, Inc.