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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > 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
... > 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

Preferred term

Glycogen Storage Disease Type VIII  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Glycogenosis 8

Note

  • do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Scope note

  • 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.

History note

  • 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 8 see under GLYCOGENOSIS 1975-88

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URI

http://www.yso.fi/onto/mesh/D006015

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RDF/XML TURTLE JSON-LD Created 12/12/74, last modified 7/5/06