Deficiency in PFK leads to glycogenosis type VII (Tarui's disease), an autosomal recessive disorder characterised by severe nausea, vomiting, muscle cramps and myoglobinuria in response to bursts of intense or vigorous exercise.
Deficiency in PFK leads to glycogen storage disease type VII (Tarui's disease), an inherited condition characterized by intense physical activity-induced nausea, vomiting, muscle cramps, and myoglobinuria.