Hepatic Lipase Deficiency
- Isabelle L. RuelAffiliated withInstitute on Nutraceuticals and Functional Foods, Laval University
- , Patrick CoutureAffiliated withInstitute on Nutraceuticals and Functional Foods, Laval University
- , Benoît LamarcheAffiliated withInstitute on Nutraceuticals and Functional Foods, Laval University
Hepatic triglyceride lipase deficiency; HTGL deficiency
Definition and Characteristics
Complete hepatic lipase (HL) deficiency is a rare genetic disorder, inherited as an autosomal recessive or codominant trait. The absence of HL leads to pathologic levels of circulating lipoproteins and an increased risk of premature cardiovascular disease (CVD).
In humans, the gene coding for HL (LIPC) is localized on chromosome 15 (q21-q-23) and spans more than 60 kb with nine exons totalizing 1.6 kb .
Molecular and Systemic Pathophysiology
HL is a 476 amino acid glycoprotein lipolytic enzyme that is primarily synthesized and secreted from hepatocytes, and anchored to the liver sinusoidal surface by heparin sulfate proteoglycans. HL plays a major ...
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- Hepatic Lipase Deficiency
- Reference Work Title
- Encyclopedia of Molecular Mechanisms of Disease
- p 810
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- Springer Berlin Heidelberg
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- Springer-Verlag GmbH Berlin Heidelberg
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