Glycogen storage disease type VII

Definition:

Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle phosphofructokinase. It is characterized by exercise-induced muscle symptoms such as premature fatigue, painful cramps, and myoglobinuria. Additional symptoms include hemolysis and myogenic hyperuricemia.

References:

[1]. C Nakagawa, et al. A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis. Muscle Nerve Suppl. 1995;3:S39-44. [Content Brief]

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