familial apo C-II deficiency


familial apo C-II deficiency
familial apolipoprotein C-II deficiency an autosomal recessive disorder caused by mutations in the APOC2 gene (locus: 19q13.2), leading to a lack of apo C-II, a necessary cofactor for lipoprotein lipase. It results in familial hyperchylomicronemia that is usually milder and of later onset than that caused by a defect in the enzyme itself. See also table at hyperlipoproteinemia.

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