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Hyperglycerolemia

MedGen UID:
1378153
•Concept ID:
C4477039
•
Finding
Synonym: Pseudohypertriglyceridemia
 
HPO: HP:0040302

Definition

Increased concentration of glycerol in the blood. [from HPO]

Recent clinical studies

Etiology

Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
Lamiquiz-Moneo I, Mateo-Gallego R, Fernández-Pardo J, López-Ariño C, Marco-Benedí V, Bea AM, Ferraro L, Jarauta E, Cenarro A, Civeira F
Atherosclerosis 2020 Dec;315:24-32. Epub 2020 Nov 2 doi: 10.1016/j.atherosclerosis.2020.10.897. PMID: 33212314
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER
Hum Mutat 2007 Mar;28(3):235-42. doi: 10.1002/humu.20424. PMID: 17089405
Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.
Gaudet D, Arsenault S, Pérusse L, Vohl MC, St-Pierre J, Bergeron J, Després JP, Dewar K, Daly MJ, Hudson T, Rioux JD
Am J Hum Genet 2000 May;66(5):1558-68. Epub 2000 Mar 27 doi: 10.1086/302903. PMID: 10736265Free PMC Article
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
Cole DE, Clarke LA, Riddell DC, Samson KA, Seltzer WK, Salisbury S
Clin Chem 1994 Nov;40(11 Pt 1):2099-103. PMID: 7955386

Diagnosis

A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report.
Sadeghmousavi S, Shahkarami S, Rayzan E, Ahmed S, Gharalari FH, Rohlfs M, Klein C, Rezaei N
Endocr Metab Immune Disord Drug Targets 2022;22(8):881-887. doi: 10.2174/1871530322666220201143656. PMID: 35105298
A case report of pseudo-hypertriglyceridemia.
Hajar S, Boumraya S, Tali A
Ann Biol Clin (Paris) 2021 Oct 1;79(5):453-455. doi: 10.1684/abc.2021.1674. PMID: 34726160
Pseudo-hypertriglyceridaemia or hyperglycerolemia?
Arrobas-Velilla T, Mondéjar-García R, Gómez-Gerique JA, Cañizares Díaz I, Cruz Mengibar MC, Orive de Diego A, Fabiani-Romero F
Clin Investig Arterioscler 2013 Jul-Aug;25(3):123-6. Epub 2013 Jul 19 doi: 10.1016/j.arteri.2013.05.005. PMID: 23877006
Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
Wibmer T, Otto J, Parhofer KG, Otto C
Exp Clin Endocrinol Diabetes 2005 Jul;113(7):396-403. doi: 10.1055/s-2005-865723. PMID: 16025401
'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.
Goussault Y, Turpin E, Neel D, Dreux C, Chanu B, Bakir R, Rouffy J
Clin Chim Acta 1982 Aug 18;123(3):269-74. doi: 10.1016/0009-8981(82)90171-1. PMID: 6288290

Therapy

Pseudo-hypertriglyceridaemia or hyperglycerolemia?
Arrobas-Velilla T, Mondéjar-García R, Gómez-Gerique JA, Cañizares Díaz I, Cruz Mengibar MC, Orive de Diego A, Fabiani-Romero F
Clin Investig Arterioscler 2013 Jul-Aug;25(3):123-6. Epub 2013 Jul 19 doi: 10.1016/j.arteri.2013.05.005. PMID: 23877006
Hypolipidemic, antioxidant, and antiinflammatory activities of microalgae Spirulina.
Deng R, Chow TJ
Cardiovasc Ther 2010 Aug;28(4):e33-45. doi: 10.1111/j.1755-5922.2010.00200.x. PMID: 20633020Free PMC Article
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER
Hum Mutat 2007 Mar;28(3):235-42. doi: 10.1002/humu.20424. PMID: 17089405

Prognosis

Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.
Wibmer T, Otto J, Parhofer KG, Otto C
Exp Clin Endocrinol Diabetes 2005 Jul;113(7):396-403. doi: 10.1055/s-2005-865723. PMID: 16025401
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER
Hum Genet 2001 Jul;109(1):55-62. doi: 10.1007/s004390100545. PMID: 11479736

Clinical prediction guides

Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
Lamiquiz-Moneo I, Mateo-Gallego R, Fernández-Pardo J, López-Ariño C, Marco-Benedí V, Bea AM, Ferraro L, Jarauta E, Cenarro A, Civeira F
Atherosclerosis 2020 Dec;315:24-32. Epub 2020 Nov 2 doi: 10.1016/j.atherosclerosis.2020.10.897. PMID: 33212314
Hypolipidemic, antioxidant, and antiinflammatory activities of microalgae Spirulina.
Deng R, Chow TJ
Cardiovasc Ther 2010 Aug;28(4):e33-45. doi: 10.1111/j.1755-5922.2010.00200.x. PMID: 20633020Free PMC Article
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER
Hum Genet 2001 Jul;109(1):55-62. doi: 10.1007/s004390100545. PMID: 11479736
Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.
Gaudet D, Arsenault S, Pérusse L, Vohl MC, St-Pierre J, Bergeron J, Després JP, Dewar K, Daly MJ, Hudson T, Rioux JD
Am J Hum Genet 2000 May;66(5):1558-68. Epub 2000 Mar 27 doi: 10.1086/302903. PMID: 10736265Free PMC Article
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

Recent systematic reviews

Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.
Lamiquiz-Moneo I, Mateo-Gallego R, Fernández-Pardo J, López-Ariño C, Marco-Benedí V, Bea AM, Ferraro L, Jarauta E, Cenarro A, Civeira F
Atherosclerosis 2020 Dec;315:24-32. Epub 2020 Nov 2 doi: 10.1016/j.atherosclerosis.2020.10.897. PMID: 33212314

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