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; [...]
CLINICAL AND BIOCHEMICAL OUTCOME OF PATIENTS WITH VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Presented By: Valentina Rovelli1,2, MD, Krista Viau1,3, RD, Marzia Pasquali1,4, PhD, Nicola Longo1,4 , MD, PhD 1Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; 2Clinical Department of Pediatrics, University [...]
Successful orthotopic heart transplantation in CPTII deficiency Presented By: Georgianne L. Arnold, Elizabeth McCracken, Brian Feingold B, Jerry Vockley University of Pittsburgh Medical Center, Pittsburgh, PA USA Corresponding author: Georgianne.arnold4@chp.edu +1 412 692 5070 BACKGROUND: CPTII deficiency has variable presentation with hypoglycemia, rhabdomyolysis, [...]
A comparative multi-omic study to characterize VLCAD patient response to triheptanoin vs. medium chain triglyceride management Presented By: Ahmad Alodaib1, 2, Areeg El-Gharbawy1, Yu Leng Phua1, Melanie Gillingham3, Jerry Vockley1, 4 and Steven F. Dobrowolski5 1Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh [...]
Bioenergetics dysfunction and permeability transition induction triggered by fatty acids accumulated in VLCAD deficiency in a hepatocyte intact system and isolated mitochondria Presented By: Bianca Seminotti, PhD1,2*, Cristiane Cecatto, MSc1,2, Simone Magagnin Wajner, MD, PhD3, Alexandre Umpierrez Amaral, PhD4, Moacir Wajner, MD, PhD1,2,5 1Departamento de [...]
Novel genetic discoveries detected using whole exome sequencing and RNA transcriptomics in 14 patients diagnosed with Multiple Acyl-CoA Dehydrogenation Deficiency (MADD) Presented By: 1.Signe Mosegaard, MSc, Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark. Email: signe.mosegaard@clin.au.dk Phone: +45 20835507 Co-authors: [...]
SUMMARY OF 5-YEAR GENE PANEL STUDY FOR TARGET INHERITED METABOLIC DISEASES IN NEWBORN SCREENING - FATTY ACID OXIDATION DEFECTS – Presented By: 1,2Hideo Sasai M.D.,Ph.D., 1Yasuhiko Ago M.D.,1Hideki Matsumoto M.D., 1,2,3Hiroki Otsuka M.D., 4Junichi Hosokawa M.D.,Ph.D., 4Ryoji Fujiki Ph.D., 4Osamu Ohara Ph.D., 5Yoko Nakajima M.D.,Ph.D., [...]
