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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Glycogen Storage Disease Type II

Terme préférentiel

Glycogen Storage Disease Type II  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Concepts associés

Synonyme(s)

  • Acid Alpha-Glucosidase Deficiency
  • Acid Maltase Deficiency Disease
  • Deficiency Disease, Acid Maltase
  • Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
  • Deficiency of Alpha-Glucosidase
  • GAA Deficiency
  • Generalized Glycogenosis
  • Glycogenosis 2
  • Glycogenosis Type II
  • Glycogen Storage Disease II
  • Glycogen Storage Disease Type 2
  • GSD2
  • GSD II
  • Lysosomal alpha-1,4-Glucosidase Deficiency Disease
  • Pompe Disease
  • Pompe's Disease

Qualificatif(s) autorisé(s)

Traductions

  • Glycogénose de type II

    français

  • Déficit en alpha-1,4-glucosidase acide
  • Déficit en alpha-1,4-glucosidase acide lysosomale
  • Déficit en alpha-1,4-glucosidase acide lysosomiale
  • Déficit en maltase acide
  • Glycogénose de Pompe
  • Glycogénose de type 2
  • GSD II
  • Maladie de Pompe

URI

http://data.loterre.fr/ark:/67375/JVR-KXNHX1QS-T

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RDF/XML TURTLE JSON-LD Date de création 12/12/1974, dernière modification le 08/07/2013