Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.

Heather Richbourg¹, Vanessa Rangel Miller¹, Omid Khazaie Japalaghi¹, Moeenaldeen AlSayed², Peter R Baker³, Sean Daugherty¹, Tali Ekstein⁴, Sarah C Grünert⁵, Mark J Kiel⁶, Aneal Khan⁷, Hironori Kobayashi⁸, Lawrence Korngut⁹, Stephanie A Monteleone⁶, Ida Vanessa D Schwartz¹⁰, Nicole Miller¹, Jerry Vockley¹¹

¹Ultragenyx Pharmaceutical Inc., Novato, California, USA.

²College of Medicine, Al-Faisal University, Riyadh, Riyadh Province, Saudi Arabia, alfaisal.edu.

³Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA, colorado.edu.

⁴Labcorp, San Francisco, California, USA.

⁵Children's Hospital, Department of Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Freiburg University Hospital, Freiburg, Baden-Württemberg, Germany.

⁶Genomenon, Ann Arbor, Michigan, USA.

⁷M.A.G.I.C. (Metabolics and Genetics in Canada) Clinic Ltd., Calgary, Alberta, Canada.

⁸Laboratories Division, Shimane University Hospital, Izumo, Shimane Prefecture, Japan, shimane-u.ac.jp.

⁹Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada, ucalgary.ca.

¹⁰Hospital de Clinicas, Porto Alegre, Rio Grande do Sul, Brazil.

¹¹Division of Medical Genetics and Center for Rare Disease Therapy, University of Pittsburgh, Pittsburgh, Pennsylvania, USA, pitt.edu.

PubMed PMC DOI PDF

Abstract

Long-chain fatty acid oxidation disorders (LC-FAODs) are characterized by the inability to metabolize long-chain fatty acids. Serious clinical manifestations occur, including cardiomyopathy, hypoglycemia, rhabdomyolysis, and liver failure. Confirming a diagnosis with genetic testing is complicated by the rarity of the disorders, genetic and phenotypic heterogeneity, and the high frequency of varia…

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