Hepatic Lipase Deficiency
Hepatic triglyceride lipase deficiency; HTGL deficiency
Definition and Characteristics
HL deficiency is one of the rarest disorders in lipoprotein metabolism, with only seven families documented to date worldwide (17 patients) [1-4].
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 role in the regulation of intravascular