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Isolated glycerol kinase deficiency

MedGen UID:
976730
Concept ID:
CN294146
Disease or Syndrome
Synonyms: Hyperglycerolemia; hyperglycerolemia; isolated glycerol kinase deficiency; isolated inborn glycerol kinase deficiency; nonsyndromic glycerol kinase deficiency; nonsyndromic inborn glycerol kinase deficiency
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0018459
Orphanet: ORPHA408

Definition

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)). [from ORDO]

Professional guidelines

PubMed

Børresen AL, Hellerud C, Møller P, Søvik O, Berg K
Clin Genet 1987 Oct;32(4):254-9. doi: 10.1111/j.1399-0004.1987.tb03309.x. PMID: 2890456

Recent clinical studies

Prognosis

Hellerud C, Wramner N, Erikson A, Johansson A, Samuelson G, Lindstedt S
Acta Paediatr 2004 Jul;93(7):911-21. PMID: 15303806
Hellerud C, Adamowicz M, Jurkiewicz D, Taybert J, Kubalska J, Ciara E, Popowska E, Ellis JR, Lindstedt S, Pronicka E
Mol Genet Metab 2003 Jul;79(3):149-59. doi: 10.1016/s1096-7192(03)00094-5. PMID: 12855219

Clinical prediction guides

Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM
Pediatr Res 2006 Apr;59(4 Pt 1):590-2. doi: 10.1203/01.pdr.0000203092.83074.eb. PMID: 16549535
Hellerud C, Adamowicz M, Jurkiewicz D, Taybert J, Kubalska J, Ciara E, Popowska E, Ellis JR, Lindstedt S, Pronicka E
Mol Genet Metab 2003 Jul;79(3):149-59. doi: 10.1016/s1096-7192(03)00094-5. PMID: 12855219
Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA
J Med Genet 2000 Jun;37(6):434-41. doi: 10.1136/jmg.37.6.434. PMID: 10851254Free PMC Article
Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER
Hum Mutat 2000;15(4):316-23. doi: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9. PMID: 10737976
Huq AH, Lovell RS, Ou CN, Beaudet AL, Craigen WJ
Hum Mol Genet 1997 Oct;6(11):1803-9. doi: 10.1093/hmg/6.11.1803. PMID: 9302256

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