Pancreatic lipase deficiency

Definition:

Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. It has been reported that PNLIP mutations are causative for the phenotype.

References:

[1]. C Figarella, et al. Congenital pancreatic lipase deficiency. J Pediatr. 1980 Mar;96(3 Pt 1):412-6. [Content Brief]

[2]. Doron M Behar, et al. Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency. J Lipid Res. 2014 Feb;55(2):307-12. [Content Brief]

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