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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Glycogen Storage Disease Type VIII
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type VIII
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type VIII

Terme préférentiel

Glycogen Storage Disease Type VIII  

Type

  • mesh:Descriptor

Définition

  • An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.

Concept générique

Synonyme(s)

  • Glycogenosis 8

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-QGXF7H6W-Z

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RDF/XML TURTLE JSON-LD Date de création 12/12/1974, dernière modification le 05/07/2006