hepatic lipase deficiency

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hepatic lipase deficiency2016-11-26T02:13:43+00:00

hepatic lipase deficiency

METABOLISM

Definition An inherited disorder (OMIM:614025) characterised by elevated beta-migrating VLDLs–very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins.  

Molecular pathology Defects of LIPC, which encodes hepatic triglyceride lipase, that acts as a triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake, cause hepatic lipase deficiency 

Synonyms HL deficiency, LIPC deficiency

References http://www.uniprot.org/uniprot/P11150

http://www.omim.org/entry/614025

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