Combined lipase deficiency
Definition:
Combined lipase deficiency (CLD) is characterized by very severe hypertriglyceridemia, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. CLD is caused by mutations in lipase maturation factor 1 (LMF1). LMF1 is a chaperone of the endoplasmic reticulum and it is required for the post-translational activation of three vascular lipases, lipoprotein lipase, hepatic lipase and endothelial lipase.
References:
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[1]. Miklós Péterfy, et al. Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. Biochim Biophys Acta. 2012 May;1821(5):790-4. [Content Brief]
[2]. Miklós Péterfy, et al. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet. 2007 Dec;39(12):1483-7. [Content Brief]
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