ALTHOUGH about 40 families with autosomal recessive muscle phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease) have been reported, (1) little is known about the long-term course and progression of the disease.
Lin HC, Young C, Wang PJ, et al: Muscle phosphofructokinase deficiency (Tarui's disease): report of a case.
Vissing J, Galbo H, Haller RG: Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency.