WikiMSK:Featured Article/1 April 2023
From WikiMSK
Featured Wiki Article for 1 April 2023
Pompe Disease
Pompe disease is a Lysosomal Storage Disease (LSD), also a type of Glycogen Storage Disease (GSD II), that is caused by a deficiency in acid alpha-glucosidase (GAA), also known as acid maltase. GAA deficiency results in the accumulation of glycogen in lysosomes in all tissues. Unlike other GSDs, which affect glycogen synthesis or regulation of energy production, GAA deficiency affects lysosomal-mediated degradation of glycogen. GAA deficiency can present in two forms: an infantile-onset form, which typically involves hypertrophic cardiomyopathy and hypotonia, and a late-onset form, which is characterised by limb girdle and axial weakness and respiratory insufficiency in late disease. - Read More
