Glycogen storage disease type II

Glycogen storage disease type II, or Pompe disease, is an inherited lysosomal disorder caused by deficient acid alpha-glucosidase. Undegraded glycogen accumulates in cells, especially in skeletal and cardiac muscle.

Acid alpha-glucosidase: A lysosomal enzyme that breaks down glycogen into glucose. Its deficiency prevents lysosomes from clearing glycogen in Pompe disease.
Enzyme replacement therapy: Treatment that supplies a functional enzyme to compensate for a patient's deficient or defective enzyme. Infused acid alpha-glucosidase can reduce glycogen accumulation and improve outcomes.
Glycogen storage disease type I: An inherited disorder of glucose release from glycogen, commonly caused by glucose-6-phosphatase system defects. It disrupts glucose production rather than lysosomal glycogen breakdown.
GAA gene: The gene encoding lysosomal acid alpha-glucosidase. Disease-causing variants in this gene account for Pompe disease.
Lysosome: A membrane-bound cell compartment that digests and recycles molecules. Pompe disease is specifically a failure of glycogen degradation inside this compartment.
Newborn screening: Testing newborns for conditions that can benefit from early detection and intervention. Early identification of Pompe disease allows treatment before severe damage develops.
Glycogen storage disease type V: An inherited muscle disorder caused by deficiency of muscle glycogen phosphorylase. It also causes exercise-related muscle symptoms, but affects cytosolic glycogen use.
Autosomal recessive inheritance: An inheritance pattern in which disease usually occurs when both gene copies carry pathogenic variants. Pompe disease typically develops when a person inherits affected GAA copies from both parents.
Glycogen: A branched polymer of glucose that animals store as a readily mobilized energy reserve. This stored carbohydrate accumulates when lysosomal degradation is impaired.
Dried blood spot test: A laboratory test performed on blood collected and dried on absorbent paper. Acid alpha-glucosidase activity in a blood spot can flag Pompe disease.

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