lipase deficiency—combined

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lipase deficiency—combined2016-11-26T21:30:24+00:00

lipase deficiency—combined

METABOLISM

Definition An autosomal recessive condition (OMIM: 246650) characterised by repeated bouts of pancreatitis, tuberous xanthomas and lipodystrophy caused by deficiency of lipoprotein lipase and hepatic triglyceride lipase.

Molecular pathology Defects of LMF1, which encodes an endoplasmic reticulum protein involved in the maturation and transport of lipoprotein lipase through the secretory pathway, cause lipase deficiency—combined. 

Synonyms LPL and HL deficiency, LPL and HTGL deficiency, lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency

References http://www.uniprot.org/uniprot/Q96S06

http://www.omim.org/entry/246650 

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