2. Biology Dictionary
  3. Glycogen storage disease type X

Glycogen storage disease type X

Definition:

Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The typical presentations are exercise intolerance, cramps, and myoglobinuria.

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