title: Pseudo-hypertriglyceridaemia or hyperglycerolemia?
abstract: Hyperglycerolemia is a very rare genetic disorder caused by glycerol kinase deficiency. Although usually is presented unexpectedly in routine checks, there are severe forms, especially in children. In general, glycerol and glycerol kinase activity analyses are not included in routine laboratory determination. Glycerol presents positive interferences with some biochemical analytic techniques, e.g. in serum triglycerides and plasma ethylene glycol levels assays. Here, we report a Spanish patient with a pseudo-hypertriglyceridaemia, a falsely elevated triglycerides concentration that was not corrected with lipid-lowering therapy for 3 years.
authors.affiliation: Profesora de la Facultad de Medicina de la Universidad Autónoma de Chile, Talca, Chile; Laboratorio de Nutrición y Riesgo Vascular, U.G.C. de Bioquímica Clínica, Hospital Universitario Virgen Macarena, Sevilla, Spain. Electronic address: teresaarrobasvelilla@hotmail.com.
authors.forename: T
authors.initials: T
authors.lastname: Arrobas-Velilla
authors.forename: R
authors.initials: R
authors.lastname: Mondéjar-García
authors.forename: J A
authors.initials: JA
authors.lastname: Gómez-Gerique
authors.forename: I
authors.initials: I
authors.lastname: Cañizares Díaz
authors.forename: M C
authors.initials: MC
authors.lastname: Cruz Mengibar
authors.forename: A
authors.initials: A
authors.lastname: Orive de Diego
authors.forename: F
authors.initials: F
authors.lastname: Fabiani-Romero
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology; D019855:Ethylene Glycol / Q000097:blood; D005990:Glycerol / Q000097:blood*; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D015228:Hypertriglyceridemia / Q000175:diagnosis* / Q000503:physiopathology; D000075262:Hypoadrenocorticism, Familial; D000960:Hypolipidemic Agents / Q000627:therapeutic use; D008297:Male; D014280:Triglycerides / Q000097:blood; D055815:Young Adult
chemical_list: D000960:Hypolipidemic Agents; D014280:Triglycerides; D005991:Glycerol Kinase; D019855:Ethylene Glycol; D005990:Glycerol
keywords: Glicerol quinasa; Glycerol kinase; Hiperglicerolemia; Hyperglycerolemia; Pseudo-hipertrigliceridemia; Pseudohypertriglyceridaemia