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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