The authors would like to thank the patients and their families for their kind cooperation.
Supported by a grant from the Scully-Peterson Foundation and by a grant from the National Eye Institute (1R01EY032889). The work is solely the responsibility of the authors and does not necessarily represent the official view of the National Institutes of Health.
Author Contributions: Conceptualization: M.B.G., T.D., G.G., and C.O.H. Data curation: T.D., G.E., G.G., and S.B. Formal analysis: T.D., G.E., and M.B.G. Acylcarnitine analysis: D.M.; provided dDHA: M.S.S. Visualization: T.D., G.E., and M.B.G., Writing – original draft: T.D. and G.E. Writing – review and editing: T.D., G.E., G.G., S.B., M.B.G., C.O.H., D.M., M.S.S., and M.E.P.
Ethics Declaration: Written informed consent was obtained from all participants for use of fibroblasts as part of the Fatty Acid Oxidation Disorders Repository (eIRB#8561). A separate institutional review board (IRB) approval for the use of stored fibroblasts from the Repository for this project was approved by the OHSU IRB (eIRB#9254). All studies adhered to the principles in the Declaration of Helsinki.
Data Availability: Data will be available upon request to the corresponding author, Dr. Melanie Gillingham at
[email protected].
Disclosure: T. DeVine, None; G. Elizondo, None; G. Gaston, None; S.J. Babcock, None; D. Matern, None; M.S. Shchepinov, Retrotrope, Inc. (E) that provided the dDHA; M.E. Pennesi, 4D Molecular Therapeutics (C), Adverum (C), Arrowhead Pharmaceuticals (C), AGTC (C), Aldebraran (C), Ascidian (C), Atsena (C), Astellas (C), BlueRock-Opsis (C), Coave (C), ClarisBio (C), Dompe (C), Editas (C), Edigene (C), Endogena (C), FFB (C), Ingel Therapeutics J-Cyte (C), Janssen (C), KalaTherapeutics (C), Kiora (C), Nacuity Pharmaceuticals (C), Ocugen (C), Ora (C), ProQR (C), Prime Editing (C), PTC Therapeutics (C), PYC Therapeutics (C), Ray Therapeutics (C), Rejuvitas (C), RestoreVision (C), RegenexBio (C), Sparing Vision (C), SpliceBio (C), Spotlight Therapeutics (C), Thea (C), Theranexus (C), AGTC (F), Biogen (F), Editas (F), FFB (F), ProQR (F), Reneuron (F), Data Safety Montitoring Board (DSMB) for Akous (R), Gensight (R), Aldebaran (I), Atsena (I), Endogena (I), EnterX (I), Ingel Therapeutics (I), Kiora (I), Nacuity Pharmaceuticals (I), Ocugen (I), and ZipBio (I); C.O. Harding, Reneo Pharmaceutical (F), Nestle Bioscience (F); M.B. Gillingham, Ultragenyx Pharmaceutical Inc. (S), Vitaflow (S), and Nutricia (S), and Nestle Bioscience (F), Reneo Pharmaceutical (F)