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 (AU)
La hiperglicerolemia es una patología debida a la deficiencia de la enzima glicerol cinasa que cursa con concentraciones elevadas de glicerol. Hay diferentes manifestaciones de la enfermedad, especialmente en niños. La dificultad diagnóstica se debe a que la actividad de la enzima glicerol cinasa no está disponible en la mayoría de laboratorios públicos. Además, la cuantificación de triglicéridos en suero presenta una interferencia analítica con la determinación de glicerol ya que la mayoría de los métodos no realizan un blanco de glicerol, y este se cuantifica junto con los triglicéridos. Presentamos un caso de un niño con hiperglicerolemia de 3 años de evolución, enmascarada por una falsa elevación de triglicéridos en sangre debido a una interferencia analítica
Subject(s)
Humans , Male , Young Adult , Hypertriglyceridemia/diagnosis , Glycerol Kinase , Diagnosis, Differential , Fibric Acids/therapeutic useABSTRACT
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.
