KEGG   DISEASE: Glycogen storage disease type III
Entry
H01941                      Disease                                

Name
Glycogen storage disease type III;
Cori disease;
Forbes disease
  Supergrp
Glycogen storage disease [DS:H00069]
Hepatic glycogen storage disease [DS:H01760]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme AGL. Most GSD-III patients have AGL deficiency in both the liver and muscle (type IIIa), but some have it in the liver but not muscle (type IIIb).
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01941  Glycogen storage disease type III
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
     H01941  Glycogen storage disease type III
Pathway
hsa00500  Starch and sucrose metabolism
Network
nt06017  Glycogen metabolism
  Element
N00721  AGL deficiency in glycogen degradation
Gene
AGL [HSA:178] [KO:K01196]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006010
OMIM: 232400
Reference
  Authors
Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS
  Title
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type  III.
  Journal
Genet Med 12:424-30 (2010)
DOI:10.1097/GIM.0b013e3181d94eaa
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