Hyperlipoproteinemia, type I

Definition:

Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in plasma.

References:

[1]. Anne P Beigneux, et al. Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. Arterioscler Thromb Vasc Biol. 2009 Jun;29(6):956-62. [Content Brief]

[2]. D Ameis, et al. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. J Clin Invest. 1991 Apr;87(4):1165-70. [Content Brief]

[3]. D W Cox, et al. A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto). J Med Genet. 1988 Oct;25(10):649-52. [Content Brief]

[4]. V Murthy, et al. Molecular pathobiology of the human lipoprotein lipase gene. Pharmacol Ther. 1996;70(2):101-35. [Content Brief]

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