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Glycogen Storage Disease Type II

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)

Year introduced: 1989(1975)

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Tree Number(s): C10., C16.320.565.189.435.340, C16.320.565.202.449.500, C16.320.565.595.554.340, C18.452.132.100.435.340, C18.452.648.189.435.340, C18.452.648.202.449.500, C18.452.648.595.554.340

MeSH Unique ID: D006009

Entry Terms:

  • Acid Maltase Deficiency Disease
  • Deficiency Disease, Acid Maltase
  • Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
  • GAA Deficiency
  • Deficiencies, GAA
  • Deficiency, GAA
  • GAA Deficiencies
  • Generalized Glycogenosis
  • Generalized Glycogenoses
  • Glycogenoses, Generalized
  • Glycogenosis, Generalized
  • Glycogen Storage Disease II
  • Glycogen Storage Disease Type 2
  • Glycogenosis 2
  • Glycogenosis Type II
  • Type II, Glycogenosis
  • Type IIs, Glycogenosis
  • GSD II
  • Lysosomal alpha-1,4-Glucosidase Deficiency Disease
  • Lysosomal alpha 1,4 Glucosidase Deficiency Disease
  • Pompe Disease
  • Disease, Pompe
  • Pompe's Disease
  • Disease, Pompe's
  • Pompes Disease
  • Deficiency of Alpha-Glucosidase
  • Alpha-Glucosidase Deficiencies
  • Alpha-Glucosidase Deficiency
  • Deficiency of Alpha Glucosidase
  • GSD2
  • GSD2s
  • Acid Alpha-Glucosidase Deficiency
  • Acid Alpha Glucosidase Deficiency
  • Acid Alpha-Glucosidase Deficiencies
  • Alpha-Glucosidase Deficiencies, Acid
  • Alpha-Glucosidase Deficiency, Acid
  • Deficiencies, Acid Alpha-Glucosidase
  • Deficiency, Acid Alpha-Glucosidase
  • Glycogen Storage Disease Type II, Juvenile
  • Juvenile Glycogen Storage Disease Type II
  • Glycogen Storage Disease Type II, Infantile
  • Infantile Glycogen Storage Disease Type II
  • Acid Maltase Deficiency
  • Acid Maltase Deficiencies
  • Deficiencies, Acid Maltase
  • Deficiency, Acid Maltase
  • Maltase Deficiencies, Acid
  • Alpha-1,4-Glucosidase Deficiency
  • Alpha 1,4 Glucosidase Deficiency
  • Alpha-1,4-Glucosidase Deficiencies
  • Deficiencies, Alpha-1,4-Glucosidase
  • Deficiency, Alpha-1,4-Glucosidase
  • Adult Glycogen Storage Disease Type II
  • Glycogen Storage Disease Type II, Adult

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