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Disease Glycogen Storage Disease Type II

Name Glycogen Storage Disease Type II
Synonyms Acid Alpha-Glucosidase Deficiencies | Acid Alpha Glucosidase Deficiency | Acid Alpha-Glucosidase Deficiency | Acid Maltase Deficiencies | Acid Maltase Deficiency | Acid Maltase Deficiency Disease | Adult Glycogen Storage Disease Type II | Alpha-1,4-Glucosidase Deficiencies | Alpha 1,4 Glucosidase Deficiency | Alpha-1,4-Glucosidase Deficiency | Alpha-Glucosidase Deficiencies | Alpha-Glucosidase Deficiencies, Acid | Alpha-Glucosidase Deficiency | Alpha-Glucosidase Deficiency, Acid | AMD | CARDIOMEGALIA GLYCOGENICA DIFFUSA | Deficiencies, Acid Alpha-Glucosidase | Deficiencies, Acid Maltase | Deficiencies, Alpha-1,4-Glucosidase | Deficiencies, GAA | Deficiency, Acid Alpha-Glucosidase | Deficiency, Acid Maltase | Deficiency, Alpha-1,4-Glucosidase | Deficiency Disease, Acid Maltase | Deficiency Disease, Lysosomal alpha-1,4-Glucosidase | Deficiency, GAA | Deficiency of Alpha Glucosidase | Deficiency of Alpha-Glucosidase | Disease, Pompe | Disease, Pompe's | GAA Deficiencies | GAA Deficiency | Generalized Glycogenoses | Generalized Glycogenosis | Glycogenoses, Generalized | Glycogenosis 2 | Glycogenosis, Generalized | GLYCOGENOSIS, GENERALIZED, CARDIAC FORM | Glycogenosis Type II | Glycogen Storage Disease II | Glycogen Storage Disease Type 2 | Glycogen Storage Disease Type II, Adult | Glycogen Storage Disease Type II, Infantile | Glycogen Storage Disease Type II, Juvenile | GSD2 | GSD2s | GSD II | GSD II;ACID ALPHA-GLUCOSIDASE DEFICIENCY | Infantile Glycogen Storage Disease Type II | Juvenile Glycogen Storage Disease Type II | Lysosomal alpha 1,4 Glucosidase Deficiency Disease | Lysosomal alpha-1,4-Glucosidase Deficiency Disease | Maltase Deficiencies, Acid | Pompe Disease | Pompe's Disease | Pompes Disease | Type II, Glycogenosis | Type IIs, Glycogenosis
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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D006009
OMIM® ID 232300
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Glycogen Storage Disease Type II Has associated chemicals Has associated genes

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Glycogen Storage Disease Type II Has associated chemicals Has associated genes
  Cardiac form of generalized glycogenosis