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Summary
ARTEFACTS AND PITFALLS : PSEUDOHYPERTRIGLYCERIDEMIA
pseudohypertriglyceridemia secondary to glycerol kinase deficiency (GKD)
(...) clinician must immediately think of the diagnosis
pseudohypertriglyceridemia or as it is more aptly termed
glycerolemia secondary to glycerol kinase deficiency (GKD) [Backes KM 2012].
Glycerine at a dose of 50 ml orally every 8 to 12 hours for treatment of glaucoma in 74 years old Thai [Charoenhirunyingyos W 2010]
symptoms
laboratory finding
Pseudohypertriglyceridemia
Triglycerides increased (pseudohypertriglyceserum
Literature
Danhauser K,et al.DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaAm J Hum Genet9161082-10872012
Tetreault M,et al.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndromeHum Genet1349981-9912015
Peters H,et al.ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolismBrain137112903-29082014
Ferdinandusse S,et al.Clinical and biochemical characterization of four patients with mutations in ECHS1Orphanet J Rare Dis10792015