Glycogenosis type II (acid maltase deficiency).

doi:10.1002/mus.880181414

Back to search

Article

Glycogenosis type II (acid maltase deficiency).

Muscle & nerve. Supplement - 1 Jan 1995

Reuser A J, Kroos M A, Hermans M M, Bijvoet A G, Verbeet M P, Van Diggelen O P, Kleijer W J, Van der Ploeg A T

Abstract excerpt

Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneo...

Topics

Glucan 1,4-alpha-Glucosidase
Glycogen Storage Disease Type II
Humans
Mutation
Prenatal Diagnosis
alpha-Glucosidases

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.