Key result
A 'glycerol blank' test revealed a true triglyceride value of 0.7 mmol/L compared to an apparent value of 7 mmol/L, diagnosing pseudohypertriglyceridaemia due to glycerol kinase deficiency.
Population
1 52-year-old man with a longstanding history of hypertriglyceridaemia (approximately 7 mmol/L) unresponsive…
Design
Case_report
Authors
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May prompt glycerol blank testing for discrepant triglycerides; leaves open broader prevalence and screening utility of glycerol kinase deficiency.
Case Report (n=1)
Pseudohypertriglyceridaemia due to glycerol kinase deficiency should be suspected in patients with refractory hypertriglyceridaemia and clear serum to avoid unnecessary treatment.
Backes et al. (2015) conducted a case report in Hypertriglyceridaemia (n=1). Glycerol blank testing was evaluated on Triglyceride value. A 'glycerol blank' test revealed a true triglyceride value of 0.7 mmol/L compared to an apparent value of 7 mmol/L, diagnosing pseudohypertriglyceridaemia due to glycerol kinase deficiency.
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