Clinical features of Pompe disease.

Abstract excerpt

Glycogen storage disease type II - also called Pompe disease or acid maltase deficiency - is an autosomal recessive metabolic disorder, caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), located on chromosome...

Topics

• Age of Onset
• Diagnosis, Differential
• Genetic Predisposition to Disease
• Glycogen
• Glycogen Storage Disease Type II
• Humans
• Lysosomes
• Muscle Weakness
• Mutation
• Prognosis
• alpha-Glucosidases