Gastrointestinal ulceration, recurrent, with dysfunctional platelets
Definition:
Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers and bleeding beginning at an early age. cPLA2 catalyzes the hydrolysis of phospholipids to arachidonic acid and lysophospholipids that are precursors of numerous bioactive lipids.
References:
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[1]. Christina C Leslie, et al. Cytosolic phospholipase A₂: physiological function and role in disease. J Lipid Res. 2015 Aug;56(8):1386-402. [Content Brief]
[2]. David H Adler, et al. Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction. J Clin Invest. 2008 Jun;118(6):2121-31. [Content Brief]
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