'Pseudohypertriglyceridemia' Caused by Hyperglycerolemia Due to Congenital Enzyme Deficiency
Overview
Affiliations
A 76-year-old man was found to have a false hypertriglyceridemia due to a 40-fold increased glycerolemia. This metabolic change was due to a deficiency in glycerol kinase (ATP:glycerol phosphotransferase, EC 2.7.1.30) activity in the cells of this patient as shown by incubation of his white blood cells with [14 C]glycerol. Several chromatographic analyses and quantitative assays were performed on plasma and urine of this patient and of his relatives. The small number of this family's members did not allow to specify the mode of transmission of this genetic trait.
Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.
Tao N, Liu X, Chen Y, Sun M, Xu F, Su Y BMC Pediatr. 2022; 22(1):517.
PMID: 36050749 PMC: 9434940. DOI: 10.1186/s12887-022-03568-9.
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
Korkut S, Bastug O, Raygada M, Hatipoglu N, Kurtoglu S, Kendirci M J Clin Res Pediatr Endocrinol. 2016; 8(4):468-471.
PMID: 27087023 PMC: 5198007. DOI: 10.4274/jcrpe.2539.
Hegele R, Ginsberg H, Chapman M, Nordestgaard B, Kuivenhoven J, Averna M Lancet Diabetes Endocrinol. 2014; 2(8):655-66.
PMID: 24731657 PMC: 4201123. DOI: 10.1016/S2213-8587(13)70191-8.
Afroze B, Yunus Z, Steinmann B, Santer R Eur J Pediatr. 2013; 172(9):1249-53.
PMID: 23881342 DOI: 10.1007/s00431-013-2084-6.
Isolated and contiguous glycerol kinase gene disorders: a review.
Sjarif D, Ploos van Amstel J, Duran M, Beemer F, Poll-The B J Inherit Metab Dis. 2000; 23(6):529-47.
PMID: 11032329 DOI: 10.1023/a:1005660826652.