<unk>  (Tarui's<unk>  is a rare autosomal recessive<unk> , clinically characterized by early exercise intolerance which manifests during childhood, with muscle pain and myoglobinuria after exercise or strenuous exercise. In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance. GSD type<unk>  is caused by mutation of phosphofructokinase gene located at 12q13 for the M (muscle isoform) that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.
Glycogen storage disease type VII
Glycogen storage disease type I CT
Glycogen storage disease type III
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type IV
Glycogen storage disease type XI
Essential fructosuria