Article
Glycerol kinase deficiency in adult hypoglycemic acidemia.
New England Journal of Medicine
(Impact Factor: 54.42).
05/2011;
364(18):1781-2.
DOI: 10.1056/NEJMc1007241
Source: PubMed
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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.Clinica e Investigacion en Arteriosclerosis 07/2013; DOI:10.1016/j.arteri.2013.05.005
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