background: familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein c-ii deficiency or the presence of inhibitors to lipoprotein lipase. it manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. case presentation: we report a rare case of...

Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. Case presentation: We report a rare case of...

Familial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junctions. We present a simple assay based on PCR and denaturing gradient gel electrophoresis, which allo...

1. Commercially available bovine serum albumin as Cohn fraction V was demonstrated to contain small amounts of apolipoprotein-CII. 2. This apolipoprotein activated lipoprotein lipase in the same way as apolipoprotein-CII purified from human very-low-density lipoproteins.

BACKGROUND Severe hypertriglyceridaemia due to chylomicronemia may trigger an acute pancreatitis. However, the basic underlying mechanism is usually not well understood. We decided to analyze some proteins involved in the catabolism of triglyceride-rich lipoproteins in patients with severe hypertriglyceridaemia. METHODS Twenty-four survivors of acute hypertriglyceridaemic pancreatitis (cases)...

Although naturally occurring loss-of-function mutations in human hepatic lipase (HL) have been described, the biochemical phenotype of heterozygous HL deficiency remains ill defined. This may be due to the relatively small numbers of heterozygous adult carriers of HL mutations in index kindreds. We have identified several new heterozygotes for the catalytically inactive, nonsecreted HL variant ...

A 60-yr-old woman and her brother, products of a consanquinous mating, were chylomicronemic. The chylomicronemia in both subjects was found to be due to the absence of functional apoCII. A mutant form, designated apoCIISt. Michael (apoCIIs), was identified by two-dimensional electrophoresis and Western blot using anti-apoCII antiserum. The isoelectric point of apoCIIs was similar to that of nor...