Article
Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.
The Journal of clinical endocrinology and metabolism - 1 Dec 2000
Hoffmann M M, Jacob S, Luft D, Schmülling R M, Rett K, März W, Häring H U, Matthaei S
Abstract excerpt
Lipoprotein lipase (LPL) is the major enzyme responsible for the hydrolysis of triglyceride-rich lipoproteins in plasma. The purpose of this study was to examine the molecular pathogenesis of type I hyperlipoproteinemia in a patient suffering from recurrent severe pancreatitis. Apolipoprotein (apo) CII concentration was normal as well as apo CII-activated LPL in an in vitro assay. In postheparin plasma neither...
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