Glycogen Storage Disease Type II (definition)

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Glycogen Storage Disease Type II

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Definition: 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. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

See Also Glucan 1,4-alpha-Glucosidase

Other names Pompe Disease; Lysosomal alpha-1,4-Glucosidase Deficiency Disease; Glycogenosis 2; Generalized Glycogenosis; Acid Maltase Deficiency Disease; Type IIs, Glycogenosis; Type II, Glycogenosis; Maltase Deficiency, Acid; Maltase Deficiencies, Acid; Pompes Disease; Lysosomal alpha 1,4 Glucosidase Deficiency Disease; IIs, Glycogenosis Type; Glycogenosis, Generalized; Glycogenosis Type IIs; Glycogenosis 2s; Glycogenoses, Generalized; Generalized Glycogenoses; Disease, Pompe's; Disease, Pompe; Deficiency, Alpha-1,4-Glucosidase

Substance	CAS Registry & name	Categories	Source
Cardiac form of generalized glycogenosis	0	*Glycogen Storage Disease Type II.
GAA protein, human	EC 3.2.1.20	*alpha-Glucosidases Glycogen Storage Disease Type II.		MYOZYME; LUMIZYME

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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