PGAM2

Glycogen storage disease type 15

Glycogen storage disease type XIV is a inherited metabolic disorder caused by deficiency in the enzyme activity phosphoglucomutase-1, which plays a key role in the first steps of glycogen metabolism.

Glycogen storage disease type XIV is associated with PGM1 (1p31.3) gene mutations, which encodes the phosphoglucomutase-1. Phosphoglucomutase-1 is the enzyme responsible for the conversion of glucose-1-phosphate to glucose-6-phosphate and vice versa. So its deficiency causes a lock anaerobic glycogenolysis. The alterations are inherited as autosomal recessive.

Glycogen storage disease panel

Glycogenosis encompasses a set of inherited diseases characterized by altered metabolism of glycogen in the body tissues, particularly affecting those where it is most needed: muscle and liver.

GSD is the result of a genetic deficiency in any of the genes vinculed to enzymes in the pathways of glycogen metabolism, either for their synthesis or degradation.

Cori described in 1952 the first glycogenosis. In this case it was associated with a deficiency in glucose-6-phosphatase. However, studies about glycogen storaged diseases were expanded until today.

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