Clinical and functional description of disease severity in multiple acyl-CoA dehydrogenase deficiency: a retrospective and laboratory cohort study Presented By: Willemijn J. van Rijta*, Bsc, Sacha Ferdinandusseb*, PhD, Panagiotis Giannopoulosa, Bsc, Jos P. N. Ruiterb, Ing, Lonneke de Boerc, MD PhD, Annet M. Boschd, MD [...]
Sex specific lipid perturbation in response to octanoate in very-long chain acyl-CoA dehydrogenase deficient (VLCAD-/-) mice Presented By: Corresponding Authors: M.Sc. Khaled Alatibi, Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatric and Adolescent Medicine, Medical Center- University of Freiburg, Germany; khaled.ibrahim.alatibi@uniklinik-freiburg.de, (49) 761 270 [...]
Improved outcomes with triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders (LC-FAOD) treated via an expanded access program (EAP) Presented By: Jinay Shah, RPh, MS1; Camille Bedrosian, MD1; Javier San Martin, MD1; Deborah Marsden, MD1 1Ultragenyx Pharmaceutical Inc., Novato, CA, USA [...]
Cardiolipin Side Chain Composition Controls Metabolic Switching and Regulates Oxidative Phosphorylation Presented By: Genevieve C. Sparagna PhD1, Hailey L. Chapman1, Valerie L. Warkins1, Elisabeth K. Phillips BS1, Anastacia M. Garcia PhD2, Danielle Jeffrey BS1, Iñigo San-Millán PhD1, Carmen C. Sucharov PhD1, Shelley D. Miyamoto MD2, [...]
The lysine desuccinylase SIRT5 regulates hepatic metabolism of medium-chain fatty acids Presented By: Eric S Goetzman*, Sivakama Bharathi, Yuxun Zhang, Xuejun Zhao, Kevin Peasley, Steven Dobrowolski, Sunder Sims-Lucas, and Satdarshan Monga University of Pittsburgh, Pittsburgh, PA United States *Corresponding author: eric.goetzman@chp.edu, 412-692-7952 BACKGROUND: [...]
Enhancement of VLCAD activity in VLCAD knockout mouse embryonic fibroblasts with novel mRNA technology Presented By: Xue-Jun Zhao1, Keaton Solo1, Huifan Shi1, Summar Siddiqui2, Christine DeAntonis2, Lisa Rice2, Paloma H Giangrande2, AI-Walid Mohsen 1,3* Paolo Martini2, Jerry Vockley 1,3 1Division of Medical Genetics, Department of [...]
Measurements of cellular metabolism in FAO using a routine blood sample Presented By: Rasmus Stenlid, Med. Stud.1,3,4, Peter Bergsten, M.D., Ph.D.3, Jing Cen, M.D., Ph.D.3, David Olsson, M.D.1,2, Anna Nordenström M.D., Ph.D.1,2 Maria Halldin, M.D. Ph.D.1,2 1. Department of women’s and children’s health, Karolinska Institutet, [...]
Short-chain acyl-CoA dehydrogenase deficiency – how to move on? Presented By: Zahra Nochi, Sarah Fogh, Rikke Katrine Jentoft Olsen & Niels Gregersen Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark Corresponding Author contact information: Zahra Nochi, [...]
Development of a Patient-Reported Outcome Questionnaire for Patients with Fatty Acid Oxidation Disorders Presented By: Authors: Susan D. Mathias, MPH 1, Niall O’Donnell, PhD 2, Wendy Newman, MPH 2, Alejandro Dorenbaum, MD 2 1 Health Outcomes Solutions, Winter Park, Florida, USA, 2 Reneo Pharmaceuticals, San [...]
Interim results from an open-label, long-term extension study to evaluate the safety and efficacy of triheptanoin (UX007) in LC-FAOD Presented By: Jerry Vockley, MD, PhD1; Barbara Burton, MD2; Gerard Berry, MD3; Nicola Longo, MD, PhD4; John A. Phillips, MD5; Amarilis Sanchez-Valle, MD6; Kimberly Chapman, MD7; [...]
