glycogenosis

A deficiency of 1-phosphofructokinase can be inherited due to the genetic disorder glycogenosis type VII Tarui's disease.

Another aspect of this phenomenon occurs in type I glycogenosis, when chronic hypoglycemia before diagnosis may be better tolerated than acute hypoglycemia after treatment is underway.

It is used to identify glycogen in lung biopsy specimens of infants with pulmonary interstitial glycogenosis (PIG)

Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Among these, some of the most common are the X-linked liver glycogenosis (XLG) diseases, which can be subdivided into XLG I and XLG II.

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.