title: Clinical features of Pompe disease.
abstract: 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 17q25.2-q25.3. The different disease phenotypes are related to the levels of residual GAA activity in muscles. The clinical spectrum ranging from the classical form with early onset and severe phenotype to not-classical form with later onset and milder phenotype is described.
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Italy.
authors.forename: Fiore
authors.initials: F
authors.lastname: Manganelli
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ruggiero
mesh_terms: D017668:Age of Onset; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D018908:Muscle Weakness / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D009154:Mutation; D011379:Prognosis; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics
chemical_list: D006003:Glycogen; D000520:alpha-Glucosidases
keywords: GAA activity; Glycogen storage disease type II; Pompe disease