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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