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Article

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

American journal of human genetics - 1 Aug 1994

Sherman J B, Raben N, Nicastri C, Argov Z, Nakajima H, Adams E M, Eng C M, Cowan T M, Plotz P H

Abstract excerpt

Phosphofructokinase (PFK) catalyzes the rate-limiting step of glycolysis. Deficiency of the muscle enzyme is manifested by exercise intolerance and a compensated hemolytic anemia. Case reports of this autosomal recessive disease suggest a predominance in Ashkenazi Jews in the United States. We have explored the genetic basis for this illness in nine affected families and surveyed the normal Ashkenazi population...

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PMID: 8037209
PMCID: PMC1918380

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