MeSH Browser

MeSH Heading: Glycogen Storage Disease Type II
Tree Number(s): C10.228.140.163.100.435.340; 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
Unique ID: D006009
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D006009
Scope Note: 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)
Entry Version: GLYCOGEN STORAGE DIS II
Entry Term(s): Acid Alpha-Glucosidase Deficiency; Acid Maltase Deficiency; Acid Maltase Deficiency Disease; Adult Glycogen Storage Disease Type II; Alpha-1,4-Glucosidase Deficiency; Deficiency Disease, Acid Maltase; Deficiency Disease, Lysosomal alpha-1,4-Glucosidase; Deficiency of Alpha-Glucosidase; GAA Deficiency; GSD II; GSD2; Generalized Glycogenosis; 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; Glycogenosis 2; Glycogenosis Type II; Infantile Glycogen Storage Disease Type II; Juvenile Glycogen Storage Disease Type II; Lysosomal alpha-1,4-Glucosidase Deficiency Disease; Pompe Disease; Pompe's Disease
Previous Indexing: Glucosidases/metabolism (1966-1974); Glycogenosis (1966-1974); Heart Diseases (1966-1974)
See Also: Glucan 1,4-alpha-Glucosidase
Public MeSH Note: 1989; see GLYCOGENOSIS 1975-88
History Note: 1989(1975); use GLYCOGENOSIS 1975-1988
Date Established: 1989/01/01
Date of Entry: 1974/12/12
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Fucosidosis [C10.228.140.163.100.435.295]
        
        Glycogen Storage Disease Type II [C10.228.140.163.100.435.340]
        
        Mucolipidoses [C10.228.140.163.100.435.590]
        
        Sialic Acid Storage Disease [C10.228.140.163.100.435.810]
        
        Sphingolipidoses [C10.228.140.163.100.435.825]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
        
        Fucosidosis [C16.320.565.189.435.295]
        
        Glycogen Storage Disease Type II [C16.320.565.189.435.340]
        
        Mucolipidoses [C16.320.565.189.435.590]
        
        Sialic Acid Storage Disease [C16.320.565.189.435.810]
        
        Sphingolipidoses [C16.320.565.189.435.825]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
      - Glycogen Storage Disease [C16.320.565.202.449]
        
        Glycogen Storage Disease Type I [C16.320.565.202.449.448]
        
        Glycogen Storage Disease Type II [C16.320.565.202.449.500]
        
        Glycogen Storage Disease Type IIb [C16.320.565.202.449.510]
        
        Glycogen Storage Disease Type III [C16.320.565.202.449.520]
        
        Glycogen Storage Disease Type IV [C16.320.565.202.449.540]
        
        Glycogen Storage Disease Type V [C16.320.565.202.449.560]
        
        Glycogen Storage Disease Type VI [C16.320.565.202.449.580]
        
        Glycogen Storage Disease Type VII [C16.320.565.202.449.600]
        
        Glycogen Storage Disease Type VIII [C16.320.565.202.449.620]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lysosomal Storage Diseases [C16.320.565.595]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
        
        Fucosidosis [C16.320.565.595.554.295]
        
        Glycogen Storage Disease Type II [C16.320.565.595.554.340]
        
        Mucolipidoses [C16.320.565.595.554.590]
        
        Sialic Acid Storage Disease [C16.320.565.595.554.810]
        
        Sphingolipidoses [C16.320.565.595.554.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
        
        Fucosidosis [C18.452.132.100.435.295]
        
        Glycogen Storage Disease Type II [C18.452.132.100.435.340]
        
        Mucolipidoses [C18.452.132.100.435.590]
        
        Sialic Acid Storage Disease [C18.452.132.100.435.810]
        
        Sphingolipidoses [C18.452.132.100.435.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
        
        Fucosidosis [C18.452.648.189.435.295]
        
        Glycogen Storage Disease Type II [C18.452.648.189.435.340]
        
        Mucolipidoses [C18.452.648.189.435.590]
        
        Sialic Acid Storage Disease [C18.452.648.189.435.810]
        
        Sphingolipidoses [C18.452.648.189.435.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
      - Glycogen Storage Disease [C18.452.648.202.449]
        
        Glycogen Storage Disease Type I [C18.452.648.202.449.448]
        
        Glycogen Storage Disease Type II [C18.452.648.202.449.500]
        
        Glycogen Storage Disease Type IIb [C18.452.648.202.449.510]
        
        Glycogen Storage Disease Type III [C18.452.648.202.449.520]
        
        Glycogen Storage Disease Type IV [C18.452.648.202.449.540]
        
        Glycogen Storage Disease Type V [C18.452.648.202.449.560]
        
        Glycogen Storage Disease Type VI [C18.452.648.202.449.580]
        
        Glycogen Storage Disease Type VII [C18.452.648.202.449.600]
        
        Glycogen Storage Disease Type VIII [C18.452.648.202.449.620]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lysosomal Storage Diseases [C18.452.648.595]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
        
        Fucosidosis [C18.452.648.595.554.295]
        
        Glycogen Storage Disease Type II [C18.452.648.595.554.340]
        
        Mucolipidoses [C18.452.648.595.554.590]
        
        Sialic Acid Storage Disease [C18.452.648.595.554.810]
        
        Sphingolipidoses [C18.452.648.595.554.825]

Glycogen Storage Disease Type II Preferred

Concept UI: M0009470
Scope Note: 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)
Terms: Glycogen Storage Disease Type II Preferred Term
Term UI T018260
Date01/01/1999
LexicalTag NON
ThesaurusID; Acid Alpha-Glucosidase Deficiency
Term UI T811567
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Acid Maltase Deficiency Disease
Term UI T368341
Date11/03/1999
LexicalTag NON
ThesaurusID; Deficiency Disease, Acid Maltase
Term UI T368343
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
Term UI T368344
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); GAA Deficiency
Term UI T822992
Date06/06/2012
LexicalTag NON
ThesaurusID; Generalized Glycogenosis
Term UI T018259
Date12/11/1974
LexicalTag NON
ThesaurusID UNK (19XX); Glycogen Storage Disease II
Term UI T822994
Date06/06/2012
LexicalTag NON
ThesaurusID NLM (2013); Glycogen Storage Disease Type 2
Term UI T750078
Date04/27/2009
LexicalTag NON
ThesaurusID; Glycogenosis 2
Term UI T018261
Date05/31/1988
LexicalTag NON
ThesaurusID UNK (19XX); Glycogenosis Type II
Term UI T368346
Date11/03/1999
LexicalTag NON
ThesaurusID; GSD II
Term UI T822993
Date06/06/2012
LexicalTag NON
ThesaurusID; Lysosomal alpha-1,4-Glucosidase Deficiency Disease
Term UI T368342
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Pompe Disease
Term UI T018262
Date06/15/1984
LexicalTag EPO
ThesaurusID; Pompe's Disease
Term UI T018263
Date12/11/1974
LexicalTag EPO
ThesaurusID; Deficiency of Alpha-Glucosidase
Term UI T842298
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); GSD2
Term UI T844616
Date05/23/2013
LexicalTag NON
ThesaurusID GHR (2014)

Adult Glycogen Storage Disease Type II Narrower

Glycogen Storage Disease Type II, Infantile Narrower

Glycogen Storage Disease Type II, Juvenile Narrower

Acid Maltase Deficiency Related

Glycogen Storage Disease Type II MeSH Descriptor Data 2024