Article
A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.
Muscle & nerve. Supplement - 1 Jan 1995
Nakagawa C, Mineo I, Kaido M, Fujimura H, Shimizu T, Hamaguchi T, Nakajima H, Tarui S
Abstract excerpt
Muscle phosphofructokinase (PFK) deficiency includes both clinically and genetically heterogeneous conditions. A 22-year-old man with muscle PFK deficiency due to previously unrecognized mutation was admitted because of gastric ulcer. He had noticed mild fatigability on vigorous exercise, but had never experienced painful cramps and myoglobinuria. His history included five time relapses of gastric ulcer and gouty...
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