Article
LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus.
Pediatric endocrinology, diabetes, and metabolism - 18 Feb 2016
Nocoń-Bohusz Julita, Wikiera Beata, Basiak Aleksander, Śmigiel Robert, Noczyńska Anna
Abstract excerpt
INTRODUCTION: Severe hypertriglyceridemia is a condition associated with extremely high triglycerides (TG) plasma concentrations exceeding 1000mg/dl. This condition may result in mutations in genes encoding lipoprotein lipase (LPL), apolipoprotein C2 (APOC2) and apolipoprotein A5 (APOA5) characterized by an autosomal recessive inheritance pattern. AIM: A case report of a patient in which clinical picture of type...
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