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POMPE DISEASE [1 record]
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%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
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