Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.
Involvement in disease
Defects in PFKM are the cause of glycogen storage disease type 7 (GSD7) [MIM:232800]; also known as Tarui disease. GSD7 is an autosomal recessive disorder characterized by exercise intolerance with associated nausea and vomiting. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. Most patients obtain a "second wind" when the onset of exercise is followed by a brief rest period. In time patients adjust their activity level and are well compensated.
Belongs to the phosphofructokinase family. Two domains subfamily.