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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.
See: This record
X-linked recessive inheritance (Orphanet)
 
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

Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.
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

Etiology

Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.
Hellerud C, Wramner N, Erikson A, Johansson A, Samuelson G, Lindstedt S
Acta Paediatr 2004 Jul;93(7):911-21. PMID: 15303806
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
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

Diagnosis

Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.
Hellerud C, Wramner N, Erikson A, Johansson A, Samuelson G, Lindstedt S
Acta Paediatr 2004 Jul;93(7):911-21. PMID: 15303806
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
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 heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT
J Med Genet 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. PMID: 9719371Free PMC Article
Isolated glycerol kinase deficiency in a neonate.
Lewis B, Harbord M, Keenan R, Carey W, Harrison R, Robertson E
J Child Neurol 1994 Jan;9(1):70-3. doi: 10.1177/088307389400900118. PMID: 7512107

Prognosis

Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.
Hellerud C, Wramner N, Erikson A, Johansson A, Samuelson G, Lindstedt S
Acta Paediatr 2004 Jul;93(7):911-21. PMID: 15303806
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
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

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
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
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
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
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
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
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
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
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
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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