KEGG   DISEASE: Glycogen storage disease type XIVHelp
Entry
H01954                      Disease                                

Name
Glycogen storage disease type XIV;
Congenital disorder of glycosylation type It
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type XIV(GSD-XIV), also known as congenital disorder of glycosylation type It, is an autosomal recessive disorder of glycogen metabolism. GSD-XIV is caused by mutations in the PGM1 gene, which encodes the phosphoglucomutase. The clinical manifestations include hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01954  Glycogen storage disease type XIV
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
     H01954  Glycogen storage disease type XIV
BRITE hierarchy
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00500  Starch and sucrose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
Gene
PGM1 [HSA:5236] [KO:K01835]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: C567859
OMIM: 614921
Reference
  Authors
Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P
  Title
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
  Journal
N Engl J Med 361:425-7 (2009)
DOI:10.1056/NEJMc0901158
Reference
  Authors
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T
  Title
Multiple phenotypes in phosphoglucomutase 1 deficiency.
  Journal
N Engl J Med 370:533-42 (2014)
DOI:10.1056/NEJMoa1206605
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