A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.

doi:10.1002/mus.880181410

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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...

Topics

Adult
Arthritis, Gouty
Exercise
Glycogen Storage Disease Type VII
Hemolysis
Humans
Male
Muscular Diseases
Mutation
Phosphofructokinase-1
Stomach Ulcer

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