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- W2000942127 abstract "Isolated asymptomatic glycerol kinase deficiency (GKD) or ‘pseudohypertriglyceridemia’, is an X-linked recessive disorder resulting in hyperglyceroluria and hyperglycerolemia. Patients typically present with hypertriglyceridemia, which is unresponsive to therapy. The falsely elevated triglycerides are a result of clinical laboratories utilizing glycerol levels to report triglyceride concentrations. Glycerol blanking will account for the excess glycerol and provide accurate triglyceride measures. Pseudohypertriglyceridemia is linked to glucose impairment and other forms of GKD involving childhood metabolic crises and developmental limitations. Identifying patients with pseudohypertriglyceridemia prevents overestimation of cardiovascular risk and exposure to unnecessary lipid-altering agents; and heightens the awareness of the potential for symptomatic GKD in male offspring. We urge clinical labs to provide a glycerol-blanked triglyceride measurement for known or suspected pseudohypertriglyceridemia." @default.
- W2000942127 created "2016-06-24" @default.
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- W2000942127 date "2014-12-01" @default.
- W2000942127 modified "2023-10-16" @default.
- W2000942127 title "Identifying pseudohypertriglyceridemia in clinical practice" @default.
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- W2000942127 doi "https://doi.org/10.2217/clp.14.52" @default.
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