KEGG   DISEASE: Glycogen storage disease type 0b
Entry
H01949                      Disease                                

Name
Glycogen storage disease type 0b;
Muscle glycogen synthase deficiency
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type 0b (GSD-0b), also known as muscle glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS1 gene, which encodes muscle glycogen synthase. The role of muscle and heart glycogen is to provide critical energy during bursts of activity and sustained muscle work. It has been reported that patients showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01949  Glycogen storage disease type 0b
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
     H01949  Glycogen storage disease type 0b
Pathway
hsa00500  Starch and sucrose metabolism
hsa04910  Insulin signaling pathway
Network
nt06017  Glycogen metabolism
  Element
N00715  GYS1 deficiency in glycogen biosynthesis
Gene
GYS1 [HSA:2997] [KO:K00693]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: C566917
OMIM: 611556
Reference
  Authors
Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH
  Title
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.
  Journal
Mol Genet Metab 98:378-82 (2009)
DOI:10.1016/j.ymgme.2009.07.012
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
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