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McArdle's disease and gout.
J G Puig1, E de Miguel, F A Mateos
1Department of Internal Medicine, La Paz University Hospital, Madrid, Spain.
Muscle & Nerve
|July 1, 1992
Summary
This study details a rare case of McArdle's disease and gout. Exercise increased purine breakdown but did not significantly alter uric acid levels, suggesting the conditions are coincidental.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Clinical Case Study
Background:
- McArdle's disease is a glycogen storage disease due to muscle phosphorylase deficiency.
- Gout is a form of inflammatory arthritis characterized by elevated uric acid levels.
- Understanding purine metabolism is crucial for managing metabolic disorders.
Observation:
- The study presents the first reported case of a patient with both McArdle's disease and tophaceous gout.
- Adenine nucleotide pools were labeled with [8-14C]adenine to trace purine degradation.
- Vigorous exercise tests were conducted to assess metabolic responses.
Findings:
- Exercise significantly increased plasma and urinary concentrations of hypoxanthine and xanthine.
- Specific radioactivity of urinary purines also markedly increased post-exercise.
- However, plasma urate levels and overall uric acid excretion remained largely unchanged.
Implications:
- The findings suggest that enhanced adenine nucleotide degradation during exercise in McArdle's disease does not directly lead to hyperuricemia.
- The co-occurrence of McArdle's disease and gout in this patient is likely coincidental.
- This case provides insight into purine metabolism disturbances in rare metabolic myopathies.