KEGG DISEASE: Glycogen storage disease type 0a

KEGG

DISEASE: Glycogen storage disease type 0a

Entry

H01950                      Disease

Name

Glycogen storage disease type 0a;
Liver glycogen synthase deficiency

Supergrp

Glycogen storage disease [DS:H00069]
Hepatic glycogen storage disease [DS:H01760]

Description

Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0a is caused by mutations in the GYS2 gene, which encodes liver glycogen synthase. In GSD-0a, the main clinical finding is intolerance to fasting accompanied by hypoglycemia.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H01950  Glycogen storage disease type 0a
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
  nt06017  Glycogen metabolism
   H01950  Glycogen storage disease type 0a

Pathway

Starch and sucrose metabolism

Network

nt06017 Glycogen metabolism

Gene

GYS2 [HSA:2998] [KO:K00693]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E

Title

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.

Journal

N Engl J Med 357:1507-14 (2007)
DOI:10.1056/NEJMoa066691

Reference

Authors

Aynsley-Green A, Williamson DH, Gitzelmann R

Title

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Journal

Arch Dis Child 52:573-9 (1977)
DOI:10.1136/adc.52.7.573

LinkDB

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