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Abstract #3927

Multimodal MRI protocol for characterization of fat quantity and composition as well as cardiac parameters in patients with long-chain fatty acid oxidation defects (LCFAOD)

Martin Buechert1, Frederike Wilbert2, Thomas Lange3, Sara Tucci2, and Ute Spiekerkoetter2

1Magnetic Resonance Development and Application Center (MRDAC), University Medical Centre, Freiburg, Germany, 2Department of Pediatrics, Adolescent Medicine and Neonatology, University Medical Center, Freiburg, Germany, 3Medical Physics, Department of Radiology, University Medical Center, Freiburg, Germany

Deficiency of very-long-chain acyl-CoA dehydrogenase is the most common inherited disorder of mitochondrial β-oxidation of LCFAs with an incidence of about 1:50,000 to 1:100,000 newborns. The clinical phenotype is very heterogeneous, involving organs and tissues that mostly rely on fatty acid β-oxidation for energy production. In order to develop new monitoring and treatment strategies various approaches to characterize such patients are tested. Here a multimodal MR-approach already applied in a pre-clinical setting is transferred to humans within a pilot study. Cardiac MRI is combined with Dixon-fat/water MRI and liver MR-spectroscopy.

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