TERMIUM Plus®
The Government of Canada’s terminology and linguistic data bank.
GLYCOGEN STORAGE DISEASE [4 records]
Record 1 - internal organization data 2023-04-27
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- The Heart
- Muscles and Tendons
Record 1, Main entry term, English
- Pompe disease
1, record 1, English, Pompe%20disease
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- glycogen storage disease type II 2, record 1, English, glycogen%20storage%20disease%20type%20II
correct
- GSD2 3, record 1, English, GSD2
correct
- GSD2 3, record 1, English, GSD2
- glycogen storage disease II 4, record 1, English, glycogen%20storage%20disease%20%20II
correct
- GSD2 3, record 1, English, GSD2
correct
- GSD2 3, record 1, English, GSD2
- acid maltase deficiency 5, record 1, English, acid%20maltase%20deficiency
correct
- AMD 6, record 1, English, AMD
correct
- AMD 6, record 1, English, AMD
- acid-maltase disease 7, record 1, English, acid%2Dmaltase%20disease
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Pompe disease (also known as acid-maltase disease and glycogen storage disease II) is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen, a stored form of sugar used for energy. 7, record 1, English, - Pompe%20disease
Record 1, Key term(s)
- acid-maltase deficiency
- acid maltase disease
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Cœur
- Muscles et tendons
Record 1, Main entry term, French
- maladie de Pompe
1, record 1, French, maladie%20de%20Pompe
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- glycogénose de type II 2, record 1, French, glycog%C3%A9nose%20de%20type%20II
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Causée par un déficit génétique ou une anomalie du fonctionnement en enzyme alpha-glucosidase acide (GAA) qui entraîne l'accumulation de glycogène dans les cellules musculaires, la maladie de Pompe se classe en deux groupes : la forme tardive et la forme infantile. 3, record 1, French, - maladie%20de%20Pompe
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Corazón
- Músculos y tendones
Record 1, Main entry term, Spanish
- enfermedad de Pompe
1, record 1, Spanish, enfermedad%20de%20Pompe
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
- glucogenosis tipo II 1, record 1, Spanish, glucogenosis%20tipo%20II
correct, feminine noun
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 CONT
La enfermedad de Pompe o glucogenosis tipo II es un trastorno autosómico recesivo, debido a la deficiencia de la enzima lisosomal α-glucosidasa ácida encargada de degradar glucógeno a glucosa. La forma de inicio en el adulto es rara y se caracteriza fundamentalmente por acumulación de glucógeno en tejido muscular estriado, cardiaco y liso. Causa debilidad muscular de predominio proximal, por lo que se puede confundir con una miopatía inflamatoria. 1, record 1, Spanish, - enfermedad%20de%20Pompe
Record 2 - internal organization data 2023-03-21
Record 2, English
Record 2, Subject field(s)
- Human Diseases - Various
- Liver and Biliary Ducts
- Muscles and Tendons
Record 2, Main entry term, English
- glycogen storage disease
1, record 2, English, glycogen%20storage%20disease
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- glycogen disease 2, record 2, English, glycogen%20disease
correct
- glycogenosis 3, record 2, English, glycogenosis
correct
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A disorder associated with an abnormal accumulation of normal or abnormal forms of glycogen in tissue. 4, record 2, English, - glycogen%20storage%20disease
Record 2, French
Record 2, Domaine(s)
- Maladies humaines diverses
- Foie et voies biliaires
- Muscles et tendons
Record 2, Main entry term, French
- glycogénose
1, record 2, French, glycog%C3%A9nose
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Toute maladie héréditaire transmise sur le mode autosomique récessif, caractérisée par le dépôt en excès du glycogène dans certains organes. 2, record 2, French, - glycog%C3%A9nose
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Enfermedades humanas varias
- Hígado y conductos biliares
- Músculos y tendones
Record 2, Main entry term, Spanish
- glucogenosis
1, record 2, Spanish, glucogenosis
correct, feminine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
Record 2, Textual support, Spanish
Record number: 2, Textual support number: 1 CONT
La glucogenosis es una enfermedad metabólica de tipo genética —no contagiosa— que se caracteriza por la ausencia o deficiencia de enzimas que participan en el metabolismo del glucógeno; es decir, la fuente de energía derivada de la glucosa que nuestro cuerpo almacena principalmente en el hígado y en el tejido muscular [...] 2, record 2, Spanish, - glucogenosis
Record 3 - internal organization data 2007-05-11
Record 3, English
Record 3, Subject field(s)
- Human Diseases - Various
- Liver and Biliary Ducts
Record 3, Main entry term, English
- type I glycogen storage disease
1, record 3, English, type%20I%20glycogen%20storage%20disease
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
- von Gierke’s disease 2, record 3, English, von%20Gierke%26rsquo%3Bs%20disease
correct
- Gierke’s disease 3, record 3, English, Gierke%26rsquo%3Bs%20disease
correct
- type 1 glycogenosis 3, record 3, English, type%201%20glycogenosis
correct
- glycogen storage disease I 4, record 3, English, glycogen%20storage%20disease%20%20I
correct
- GSD I 4, record 3, English, GSD%20I
correct
- GSD I 4, record 3, English, GSD%20I
- hepatorenal glycogenosis 5, record 3, English, hepatorenal%20glycogenosis
correct
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
[A] glucose-6-phosphatase deficiency, resulting in [the] accumulation of excessive amounts of glycogen of normal chemical structure, particularly in [the] liver and [kidneys]. 3, record 3, English, - type%20I%20glycogen%20storage%20disease
Record 3, French
Record 3, Domaine(s)
- Maladies humaines diverses
- Foie et voies biliaires
Record 3, Main entry term, French
- maladie de von Gierke
1, record 3, French, maladie%20de%20von%20Gierke
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- glycogénose de type I 1, record 3, French, glycog%C3%A9nose%20de%20type%20I
correct, feminine noun
- GSD I 2, record 3, French, GSD%20I
correct, feminine noun
- GSD I 2, record 3, French, GSD%20I
- glycogénose hépato-rénale 3, record 3, French, glycog%C3%A9nose%20h%C3%A9pato%2Dr%C3%A9nale
correct, feminine noun
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
[...] déficit en glucose-6-phosphatase [caractérisé] par une hépatomégalie, un retard dans le développement, une hypoglycémie, une cétose, une hyperlipémie et une acidémie hyperlactique. 3, record 3, French, - maladie%20de%20von%20Gierke
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 2003-04-04
Record 4, English
Record 4, Subject field(s)
- Endocrine System and Metabolism
- Liver and Biliary Ducts
- Genetics
Record 4, Main entry term, English
- Andersen’s disease
1, record 4, English, Andersen%26rsquo%3Bs%20disease
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
- Andersen disease 2, record 4, English, Andersen%20disease
correct
- Najjar-Andersen syndrome 1, record 4, English, Najjar%2DAndersen%20syndrome
correct
- glycogenosis IV 3, record 4, English, glycogenosis%20IV
correct
- glycogen storage disease type IV 3, record 4, English, glycogen%20storage%20disease%20type%20IV
correct
- GSD IV 1, record 4, English, GSD%20IV
correct
- alpha 1,4-glucan-6-glucosyl transferase deficiency 1, record 4, English, alpha%201%2C4%2Dglucan%2D6%2Dglucosyl%20transferase%20deficiency
correct
- amylopectinosis brancher deficiency 1, record 4, English, amylopectinosis%20brancher%20deficiency
- brancher enzyme deficiency 1, record 4, English, brancher%20enzyme%20deficiency
- brancher deficiency 2, record 4, English, brancher%20deficiency
- amylopectinosis 2, record 4, English, amylopectinosis
- familial cirrhosis with deposition of abnormal glycogen 1, record 4, English, familial%20cirrhosis%20with%20deposition%20of%20abnormal%20glycogen
- liver cirrhosis-abnormal glycogen syndrome 1, record 4, English, liver%20cirrhosis%2Dabnormal%20glycogen%20syndrome
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
An inborn disorder of the endocrine glands with error of glycogen metabolism due to a 1,4-glucan-alpha 1,4-glucan-6-glucosyl transferase deficiency. 1, record 4, English, - Andersen%26rsquo%3Bs%20disease
Record 4, French
Record 4, Domaine(s)
- Systèmes endocrinien et métabolique
- Foie et voies biliaires
- Génétique
Record 4, Main entry term, French
- maladie d'Andersen
1, record 4, French, maladie%20d%27Andersen
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- glycogénose musculaire type IV 2, record 4, French, glycog%C3%A9nose%20musculaire%20type%20IV
feminine noun
Record 4, Textual support, French
Record number: 4, Textual support number: 1 CONT
Le déficit en enzyme branchante (amylo-1,4-> 1,6-transglycosylase) ou glycogénose de type IV (maladie d'Andersen) a un spectre très étendu de phénotypes cliniques. L'enzyme est codée par un gène porté par le chromosome 3. Le déficit enzymatique, transmis selon un mode autosomique récessif, peut être cliniquement silencieux ou s'exprimer par une atteinte hépatique, cardiaque, musculaire, squellettique ou cérébrale. [...] Le diagnostic repose sur la mise en évidence de l'accumulation glycogénique [...] dans les tissus atteints. 1, record 4, French, - maladie%20d%27Andersen
Record 4, Spanish
Record 4, Textual support, Spanish
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