Glycogen storage disease type VIII

MedGen UID:: 42261
•Concept ID:: C0017927
•: Disease or Syndrome

Synonyms:	Glycogen Storage Disease Type VIII; Glycogenosis 8
SNOMED CT:	Glycogen storage disease type 8 (41527003); Hepatic glycogen phosphorylase kinase deficiency (297255007); Glycogen storage disease type VIII (41527003); Glycogenosis due to inactive phosphorylase (41527003); Glycogenosis due to inactive hepatic glycogen phosphorylase (41527003); GSD VIII (41527003)

Definition

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. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycogen storage disease type VIII

Non-Neoplastic Disorder
- Non-Neoplastic Disorder by Special Category
  - Metabolic disease
    - Carbohydrate metabolism disease
      - Inborn carbohydrate metabolic disorder
        Glycogen storage disease
        Glycogen storage disease type VIII

Professional guidelines

PubMed

Glycogen storage disease: recommendations for treatment.

Fernandes J, Leonard JV, Moses SW, Odièvre M, di Rocco M, Schaub J, Smit GP, Ullrich K, Durand P
Eur J Pediatr 1988 Apr;147(3):226-8. doi: 10.1007/BF00442683. PMID: 3292244

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Recent clinical studies

Diagnosis

A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor.

Shiomi S, Saeki Y, Kim K, Nishiguchi S, Seki S, Kuroki T, Kobayashi K, Harihara S, Owada M
Gastroenterol Jpn 1989 Dec;24(6):711-4. doi: 10.1007/BF02774172. PMID: 2558039

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