Pseudohypertriglyceridemia due to benign glycerol kinase deficiency

Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score

“…The 15 studies included a total of 39 adult participants (aged 23-70 years). All articles reported severe HTG: thirteen articles showed a range of TG from 484 to 1992 mg/dL [5,7,8,[14][15][16][17][18][19][20][21][22][23], however two of them did not report concrete values of TG [24,25]. Twelve articles reported high levels of plasma glycerol [5,7,8,14,15,[17][18][19][20][21][22][23][24], with a range from 0.195 to 210 mmol/L, and eight of them showed the presence of glycerol in urine.…”

“…All articles reported severe HTG: thirteen articles showed a range of TG from 484 to 1992 mg/dL [5,7,8,[14][15][16][17][18][19][20][21][22][23], however two of them did not report concrete values of TG [24,25]. Twelve articles reported high levels of plasma glycerol [5,7,8,14,15,[17][18][19][20][21][22][23][24], with a range from 0.195 to 210 mmol/L, and eight of them showed the presence of glycerol in urine. Regarding to the incidence of other diseases associated with isolated GKD, none of the 39 adults included showed any case of pancreatitis, only two subjects had DM, four had cardiovascular disease, seven presented hypertension, two had overweight and two of them had renal disease.…”

“…Nine articles reported the causative mutation in the GK gene; a) two of them showed a frameshift mutation: c.730-¿833+? del, p.(Lys244Valfs*10) [14] and IVS6 G-1--C; which produces the deletion of AG at nucleotides 553-554 [18]; b) four articles reported six missense variants responsible of GKD disease:…”

“…IVS3+1G>A, IVS10+1G>T, IVS4-52ins316alu and IVS9A-1G>A, causing a premature stop codon; d) one article showed the deletion of a serine in the amino acid 355 [8]. Interestingly, one of most determining characteristic of isolated GKD was that HTG persisted in spite of lipidlowering therapy and lifestyle change, and this fact was indicated by eight articles [8,[14][15][16][17][18]20,21].…”

An unusual case of (pseudo)hypertriglyceridaemia

“…Enzymatic analysis of triglycerides can suffer from glycerol interference. In blood, free glycerol concentration is ± 1 mg/dL, equivalent to ± 10 mg/dL of triglycerides [ 4–6 ]. Increased glycerol concentrations can be caused by pre-analytical factors, by the pharmacological use of glycerol and by GKD giving rise to pseudohypertriglyceridaemia [ 1 ].…”