Disease Information for Glycogen storage muscle disease/Pompe: Definition

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  • 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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