Pseudo-hypertriglyceridaemia or hyperglycerolemia?

Clin Investig Arterioscler. 2013 Jul-Aug;25(3):123-6. doi: 10.1016/j.arteri.2013.05.005. Epub 2013 Jul 19.

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.

Keywords: Glicerol quinasa; Glycerol kinase; Hiperglicerolemia; Hyperglycerolemia; Pseudo-hipertrigliceridemia; Pseudohypertriglyceridaemia.

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / diagnosis*
  • Carbohydrate Metabolism, Inborn Errors / physiopathology
  • Ethylene Glycol / blood
  • Glycerol / blood*
  • Glycerol Kinase / deficiency*
  • Humans
  • Hypertriglyceridemia / diagnosis*
  • Hypertriglyceridemia / physiopathology
  • Hypoadrenocorticism, Familial
  • Hypolipidemic Agents / therapeutic use
  • Male
  • Triglycerides / blood
  • Young Adult

Substances

  • Hypolipidemic Agents
  • Triglycerides
  • Glycerol Kinase
  • Ethylene Glycol
  • Glycerol