GAA

1 article(s) in the watch · Constitutional genetics

GAA encodes lysosomal acid alpha-glucosidase. Its deficiency causes Pompe disease (glycogen storage disease type II).

InheritanceAutosomal recessive

Clinical spectrumMuscle and respiratory involvement; cardiomyopathy in the infantile form

ManagementEnzyme replacement therapy; newborn screening in some countries.

Curated publications

High prevalence of GAA c.[752C>T;761C>T] haplotype complicates high-risk screening for Pompe disease in the Chinese population

Pompe disease — GAA pseudodeficiency in East Asian populations