Glycogenosis type V (McArdle's disease) with hyperuricemia. A case report and clinical investigation.
A 28-year-old male with glycogenosis type V associated with continuous hyperuricemia during mild daily activities is reported. An aerobic exercise test using a bicycle ergometer revealed that purine metabolites, i.e., ammonia, inosine, hypoxanthine and xanthine, were transiently increased by the exercise and that a subsequent increment in uric acid continued until the following day. The accelerated purine degradation by the muscle exercise was thus shown to be able to cause the overt hyperuricemia in a patient with glycogenosis type V. Therapeutic use of fructose for glycogenosis was disappointing due to fructose-induced hyperuricemia. A search for myogenic hyperuricemia is essential for therapeutic trials.
Jinnai
K
K
Department of Internal Medicine, Kobe University School of Medicine, Japan.
Kono
N
N
Yamamoto
Y
Y
Kanda
F
F
Ohno
S
S
Tsutsumi
M
M
Yamada
Y
Y
Kawachi
M
M
Tarui
S
S
Fujita
T
T
D000328:Adult; D001706:Biopsy; D004798:Enzymes / Q000378:metabolism; D005080:Exercise Test; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006073:Gout / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009460:Neurologic Examination; D014527:Uric Acid / Q000097:blood*
D004798:Enzymes; D014527:Uric Acid