Multiple acyl-CoA dehydrogenase deficiency due to a novel homozygous and compound heterozygous mutation in the ETFDH gene in three South African patients  Presented By: Francois H van der Westhuizen (PhD)a, Izelle Smuts (MBChB, MMed (Pead), PhD)b, Engela M Honey (MBChB.; MMed (Pead)c, Michael M Lippert [...]

Intravenous Sources of Medium Chain Triglycerides for Critically Ill Patients with Fatty Acid Oxidation Disorders Authors: Heather Bausell, RD, LDN (1), Katherine Kim, MS (1, 2), Barbara Burton (1, 2) Affiliations: (1) Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA (2) Northwestern [...]

Infant Mortality associated with Inborn Errors of Metabolism: a study based on Sudden Death Presented By: de Bitencourt, F.H.1; Vianna, F.S.L.2; Schwartz, I.V.D.3 1 Msc in Medical Science, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Affiliation: Postgraduated Program in Genetics and Molecular [...]

Endoplasmic reticulum-mitochondria crosstalk and redox homeostasis disruption in very long-chain acyl-CoA dehydrogenase deficient fibroblasts Presented By: Bianca Seminotti1*, PhD, Al-Walid Mohsen1, PhD, Guilhian Leipnitz 1,2, PhD, Anuradha Karunanidhi 1, MS, PhD, Peter Wipf 3, PhD, Jerry Vockley 1,4, MD, PhD. 1Division Medical Genetics, Department Pediatrics, [...]

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY: HOW TO SCREEN AND TREAT?   Presented By: Risto Lapatto, MD, PhD, Children’s Hospital, University of Helsinki, Helsinki, Finland Jetta Tuokkola, RD, PhD, Children’s Hospital, University of Helsinki, Helsinki, Finland Corresponding author contact information: risto.lapatto@hus.fi Phone+358504286413 Background: Carnitine [...]

Assessments of Exercise Tolerance and Muscle Function in Long Chain-Fatty Acid Oxidation Disorders (LC-FAOD): Results from a Phase 2 Open Label Study of UX007 Presented By: Jill Mayhew, PT1;  Jerry Vockley, MD, PhD2; Barbara Burton, MD3;  Gerard Berry, MD4; Nicola Longo, MD5; John Phillips, MD6; [...]

The biochemical basis for overlap of clinical features of LCHAD/TFP deficiency with mitochondrial respiratory chain defects: Implications for new therapeutic approaches Presented By: *Areeg El-Gharbawy1 MD, Bianca Seminotti1 PhD, Genevieve Sparagna 2PhD,Grant Hatch3 PhD, Shrabani Basu1MS, Anuradha Karunanidhi1 MS, Walid Al-Mohsen1PhD , Jerry Vockley1,4 MD, [...]

Results from a 78-week Single-arm, Open-label Phase 2 Study to Evaluate UX007 in Pediatric and Adult Patients with Moderate to Severe Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Jerry Vockley, MD, PhD1; Barbara Burton, MD2; Gerard Berry, MD3; Nicola Longo, MD4; John Phillips, MD5;  Amarilis Sanchez-Valle, MD6; [...]

Physical Interactions of the Mitochondrial Electron Transfer Chain and Fatty Acid Oxidation Yudong Wang1, Johan Palmfeldt2, Neils Gregersen2, Alexander Makhov3, J Conway3, Steve McCalley1, Meicheng Wang4, Hana Alharbi1, Shrabani Basu1, Xuemei Zeng6, Nathan Yates5, and Jerry Vockley1,6 1Department of Pediatrics, University of Pittsburgh School of Medicine, [...]

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery Judith Hagenbuchner1, Sabine Scholl-Bürgi2, Michael J. Ausserlechner2*, and Daniela Karall2* 1Departments of Pediatrics II and 2Pediatrics I, Medical University Innsbruck, Innsbruck, Austria Abstract Background: Patients diagnosed with [...]