Hepatic lipase deficiency

Definition:

Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations in LIPC have been identified to be responsible for this disease.

References:

[1]. Isabelle L Ruel, et al. Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. J Lipid Res. 2003 Aug;44(8):1508-14. [Content Brief]

[2]. W C Breckenridge, et al. Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis. 1982 Nov;45(2):161-79. [Content Brief]

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