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 [...]

Mitochondrial dysfunction caused by fatty acids accumulating in VLCAD deficiency Alexandre Umpierrez Amaral PhD1,3*, Cristiane Cecatto MSc1, Kálita dos Santos Godoy1, Lucas Henrique Rodrigues da Silva1, Kaleb Pinto Spannenberger1, Janaína Camacho da Silva PhD1, Roger Frigério Castilho MD, PhD2, Moacir Wajner MD, PhD1 1Departamento de Bioquímica, [...]

Development and characterization of patient-specific iPSC-derived retinal pigmentary epithelia (RPE)-like cells as a model of LCHAD-associated retinopathy. Tiffany DeVine, PhD1 Garen Gaston, MS1, Dietrich Matern, MD, PhD2, Cary O. Harding, MD1, Melanie B. Gillingham, PhD1 1Department of Molecular & Medical Genetics at Oregon Health & Science [...]

Fatty acid oxidation disorders: case series of a tertiary teaching hospital of Southern Brazil Ida Vanessa Doederlein Schwartz 1,2; Bibiana Mello de Oliveira 2; Ana Paula Kurz de Boer2; Renata Barreto Tenorio2; Ana Karolina Maia de Andrade2; Carolina Fischinger Moura de Souza2   Department of Genetics, [...]

The comparison of the digestion and absorption of trioctanoin (C8) and triheptanoin (C7) in patients with long-chain fatty acid oxidation disorders. Gillingham MB1, Guillory KK1, Martin JM1, Matern, D2, Harding CO1, Vockley J3 1Oregon Health & Science University, Portland, OR, 2Mayo Clinic Biochemical Genetics Laboratory, Rochester, [...]

Assessment of the outcome and biochemical characteristics of infants with abnormal NBS for systemic primary carnitine deficiency and its the carrier frequency in the US Kimihiko Oishi, MD, Lissette Estrella, NP, Ashley H. Birch, PhD, Ruth Kornreich, PhD, Lisa Edelmann, PhD, Pankaj Prasun, MD, George A. [...]

VLCAD deficiency related chronic inflammation pattern is suggestive of systemic mediators Authors: Megan Beck, PhD, University of Tennessee Health Science Center, Memphis, TN, USA Angel Lin, BS, University of Tennessee Health Science Center, Memphis, TN, USA Josh Michel, MS, University of Pittsburgh, School Med, Pittsburgh, PA, [...]

Molecular Diagnosis for Target Metabolic Diseases of Newborn Screening Using a Gene Panel in Japan Authors: 1,2 Hideo Sasai M.D.,Ph.D., 1,2 Hiroki Otsuka M.D., 3 Ryoji Fujiki Ph.D., 3 Osamu Ohara Ph.D., 4 Yoko Nakajima M.D.,Ph.D., 4 Tetsuya Ito M.D.,Ph.D., 5 Masahisa Kobayashi M.D.,Ph.D., 6 Go [...]