KEGG   DISEASE: Glycerol kinase deficiency
Entry
H02013                      Disease                                

Name
Glycerol kinase deficiency
  Supergrp
Chromosome Xp21 deletion syndrome [DS:H00552]
Description
Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H02013  Glycerol kinase deficiency
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
     H02013  Glycerol kinase deficiency
Pathway
hsa00561  Glycerolipid metabolism
hsa03320  PPAR signaling pathway
Gene
GK [HSA:2710] [KO:K00864]
Other DBs
ICD-11: 5C51.1
ICD-10: E74.8
MeSH: D000075262
OMIM: 307030
Reference
  Authors
Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT
  Title
Isolated and contiguous glycerol kinase gene disorders: a review.
  Journal
J Inherit Metab Dis 23:529-47 (2000)
DOI:10.1023/A:1005660826652
Reference
PMID:9302256
  Authors
Huq AH, Lovell RS, Ou CN, Beaudet AL, Craigen WJ
  Title
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
  Journal
Hum Mol Genet 6:1803-9 (1997)
DOI:10.1093/hmg/6.11.1803
Reference
PMID:8651297
  Authors
Walker AP, Muscatelli F, Stafford AN, Chelly J, Dahl N, Blomquist HK, Delanghe J, Willems PJ, Steinmann B, Monaco AP
  Title
Mutations and phenotype in isolated glycerol kinase deficiency.
  Journal
Am J Hum Genet 58:1205-11 (1996)
Reference
PMID:9719371
  Authors
Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT
  Title
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
  Journal
J Med Genet 35:650-6 (1998)
DOI:10.1136/jmg.35.8.650
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