KEGG DISEASE: Glycogen storage disease type XIV

DISEASE: Glycogen storage disease type XIV

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 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
     H01954  Glycogen storage disease type XIV

Pathway

hsa00010

Glycolysis / Gluconeogenesis

hsa00052

Galactose metabolism

hsa00030

Pentose phosphate pathway

hsa00500

Starch and sucrose metabolism

hsa00520

Amino sugar and nucleotide sugar metabolism

Gene

PGM1 [HSA:5236] [KO:K01835]

Other DBs

ICD-11:

5C51.3

MeSH:

C567859

OMIM:

614921

Reference

PMID:19625727

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

PMID:24499211

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

LinkDB

» Japanese version

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