Disease Information for Glycogen storage muscle disease/Pompe

Synonyms:

ACID ALPHA GLUCOSIDASE DEFICIENCY, ACID MALTASE DEFIC DIS, ACID MALTASE DEFICIENCY, Acid Maltase Deficiency Disease, alpha 1 4 glucosidase deficiency, ALPHA GLUCOSIDASE DEFICIENCY, AMD, AMD Acid maltase deficiency, CARDIOMEGALIA GLYCOGENICA DIFFUSA, DEFIC DIS ACID MALTASE, DEFIC DIS LYSOSOMAL ALPHA 1 4 GLUCOSIDASE, Deficiency Disease Acid Maltase, Deficiency Disease Lysosomal alpha 1 4 Glucosidase, Deficiency of acid maltase, Deficiency of alpha glucosidase, Deficiency of alpha glucosidase (disorder), Deficiency of amyloglucosidase, Deficiency of exo 1 4 alpha glucosidase, Deficiency of gamma amylase, Deficiency of glucan 1 4 alpha glucosidase, Deficiency of glucan 1 4 alpha glucosidase (disorder), Deficiency of glucoamylase, Deficiency of glucoinvertase, Deficiency of glucosidosucrase, Deficiency of lysosomal alpha glucosidase, Deficiency of maltase, Deficiency of maltase glucoamylase, GAA DEFICIENCY, Generalised glycogen storage disease of infants, Generalised glycogenosis, Generalized glycogen storage disease of infants, Generalized glycogenosis, Generalized glycogenosis (disorder), Glycogen heart disease, GLYCOGEN STORAGE DIS II, Glycogen storage disease II, glycogen storage disease type II, Glycogen storage disease type II (disorder), Glycogenosis (generalised) or (Pompe's disease) or (type 2), Glycogenosis (generalized) or (Pompe's disease) or (type 2), GLYCOGENOSIS 02, Glycogenosis 2, Glycogenosis Generalized, GLYCOGENOSIS GENERALIZED CARDIAC FORM, Glycogenosis type 2, glycogenosis type II, Glycogenosis Type IIs, GSD II, IIs Glycogenosis Type, Lysosom alpha 1 4 glucosid def, LYSOSOMAL ALPHA 1 4 GLUCOSIDASE DEFIC DIS, Lysosomal alpha 1 4 glucosidase deficiency, Lysosomal alpha 1 4 glucosidase deficiency (disorder), Lysosomal alpha 1 4 Glucosidase Deficiency Disease, LYSOSOMAL ALPHA GLUCOSIDASE DEFICIENCY DISEASE 01 04, LYSOSOMAL GLUCOSIDASE DEFICIENCY, Pompe, POMPE DIS, POMPE DISEASE, POMPES DIS, Pompes Disease, Pompe's disease, Type II glycogen storage disease, Type II Glycogenosis, Type IIs Glycogenosis

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Definition:

Pompe disease or Acid Maltase Deficiency type II Glycogen Storage disease:synonyms: Acid Maltase Deficiency,Alpha-1,4 Glucosidase Deficiency,Cardiomegalia Glycogenica Diffusa,Generalized Glycogenosis ,Glycogenosis Type II, Lysosomal Glucosidase Deficiency; Pompe disease is a hereditary metabolic disorder caused by the complete or partial deficiency of the enzyme acid alpha-glucosidase (also known as lysosomal alpha-glucosidase or acid maltase); This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes of many cell types but predominantly in muscle cells; The resulting cellular damage manifests as muscle weakness and/or respiratory difficulty; It is also classified as glycogen storage disease type II (GSD II)

-----[NORD 2005]-----------------------------------

An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY; Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN; Three forms have been described: infantile, childhood, and adult; The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC); The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms; The adult form consists of a slowly progressive proximal myopathy; ----(Menkes, Textbook of Child Neurology, 5th ed,)---

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