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Abstract #2260

Hepatic Cholesterol Ester Accumulation in Lysosomal Acid Lipase Deficiency: Non-invasive Identification and Treatment Monitoring by Magnetic Resonance

Peter E Thelwall 1 , Fiona E Smith 1 , Mark Leavitt 2 , David Canty 2 , Wei Hu 2 , Kieren G Hollingsworth 1 , Christian Thoma 3 , Michael Trenell 3 , Roy Taylor 1 , Joseph V Rutkowski 2 , Andrew M Blamire 1 , and Anthony G Quinn 2

1 Newcastle Magnetic Resonance Centre, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom, 2 Synageva Biopharm Corp, Lexington, MA, United States, 3 Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom

Cholesterol Ester Storage Disease (CESD) is caused by accumulation of cholesterol esters due to mutation in the gene encoding the enzyme Lysosomal Acid Lipase. We have demonstrated that hepatic 1 H spectroscopy can be used to detect and quantify elevated hepatic cholesterol ester content. We performed preclinical studies on a rat model of CESD to demonstrate the ability of 1 H MRS to quantify the effects of a novel enzyme replacement therapy. Furthermore, we translated our methods to human studies and demonstrated that elevated hepatic cholesterol ester content can be observed in patients with CESD.

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