| Descriptor English: | Glycogen Storage Disease Type II | ||||||
| Descriptor Spanish: |
Enfermedad del Almacenamiento de Glucógeno Tipo II
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| Descriptor Portuguese: | Doença de Depósito de Glicogênio Tipo II | ||||||
| Descriptor French: | Glycogénose de type II | ||||||
| Entry term(s): |
Acid Alpha Glucosidase Deficiency Acid Alpha-Glucosidase Deficiencies Acid Alpha-Glucosidase Deficiency Acid Maltase Deficiencies Acid Maltase Deficiency Acid Maltase Deficiency Disease Adult Glycogen Storage Disease Type II Alpha 1,4 Glucosidase Deficiency Alpha-1,4-Glucosidase Deficiencies Alpha-1,4-Glucosidase Deficiency Alpha-Glucosidase Deficiencies Alpha-Glucosidase Deficiencies, Acid Alpha-Glucosidase Deficiency Alpha-Glucosidase Deficiency, Acid Deficiencies, Acid Alpha-Glucosidase Deficiencies, Acid Maltase Deficiencies, Alpha-1,4-Glucosidase Deficiencies, GAA Deficiency Disease, Acid Maltase Deficiency Disease, Lysosomal alpha-1,4-Glucosidase Deficiency of Alpha Glucosidase Deficiency of Alpha-Glucosidase Deficiency, Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, Alpha-1,4-Glucosidase Deficiency, GAA Disease, Pompe Disease, Pompe's GAA Deficiencies GAA Deficiency GSD II GSD2 GSD2s Generalized Glycogenoses 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 Glycogenoses, Generalized Glycogenosis 2 Glycogenosis Type II Glycogenosis, Generalized 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 |
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| 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 |
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| RDF Unique Identifier: | https://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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Glucosidases/metabolism (1966-1974) Glycogenosis (1966-1974) Heart Diseases (1966-1974) |
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| Public MeSH Note: | 1989; see GLYCOGENOSIS 1975-88 |
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| History Note: | 1989(1975); use GLYCOGENOSIS 1975-1988 |
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| Entry Version: | GLYCOGEN STORAGE DIS II |
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| Related: |
Glucan 1,4-alpha-Glucosidase
MeSH | ||||||
| DeCS ID: | 24392 | ||||||
| Unique ID: | D006009 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1989/01/01 | ||||||
| Date of Entry: | 1974/12/12 | ||||||
| Revision Date: | 2013/07/08 |
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Glycogen Storage Disease Type II
- Preferred
Glycogen Storage Disease Type II, Juvenile
- Narrower
Glycogen Storage Disease Type II, Infantile
- Narrower
Acid Maltase Deficiency
- Related but not broader or narrower
Adult Glycogen Storage Disease Type II
- Narrower
| 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) |
| Preferred term | Glycogen Storage Disease Type II |
| Entry term(s) |
Acid Alpha Glucosidase Deficiency Acid Alpha-Glucosidase Deficiencies Acid Alpha-Glucosidase Deficiency Acid Maltase Deficiency Disease Alpha-Glucosidase Deficiencies Alpha-Glucosidase Deficiencies, Acid Alpha-Glucosidase Deficiency Alpha-Glucosidase Deficiency, Acid Deficiencies, Acid Alpha-Glucosidase Deficiencies, GAA Deficiency Disease, Acid Maltase Deficiency Disease, Lysosomal alpha-1,4-Glucosidase Deficiency of Alpha Glucosidase Deficiency of Alpha-Glucosidase Deficiency, Acid Alpha-Glucosidase Deficiency, GAA Disease, Pompe Disease, Pompe's GAA Deficiencies GAA Deficiency GSD II GSD2 GSD2s Generalized Glycogenoses Generalized Glycogenosis Glycogen Storage Disease II Glycogen Storage Disease Type 2 Glycogenoses, Generalized Glycogenosis 2 Glycogenosis Type II Glycogenosis, Generalized Lysosomal alpha 1,4 Glucosidase Deficiency Disease Lysosomal alpha-1,4-Glucosidase Deficiency Disease Pompe Disease Pompe's Disease Pompes Disease Type II, Glycogenosis Type IIs, Glycogenosis |
| Concept UI |
M0335242 |
| Preferred term | Glycogen Storage Disease Type II, Juvenile |
| Entry term(s) |
Juvenile Glycogen Storage Disease Type II |
| Concept UI |
M0335241 |
| Preferred term | Glycogen Storage Disease Type II, Infantile |
| Entry term(s) |
Infantile Glycogen Storage Disease Type II |
| Concept UI |
M0535557 |
| Preferred term | Acid Maltase Deficiency |
| Entry term(s) |
Acid Maltase Deficiencies Alpha 1,4 Glucosidase Deficiency Alpha-1,4-Glucosidase Deficiencies Alpha-1,4-Glucosidase Deficiency Deficiencies, Acid Maltase Deficiencies, Alpha-1,4-Glucosidase Deficiency, Acid Maltase Deficiency, Alpha-1,4-Glucosidase Maltase Deficiencies, Acid |
| Concept UI |
M0335240 |
| Preferred term | Adult Glycogen Storage Disease Type II |
| Entry term(s) |
Glycogen Storage Disease Type II, Adult |
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