See links to full-text articles on PubMed.gov.

1. Babcock SJ, Curtis AG, Gaston G, Elizondo G, Gillingham MB, Ryals RC. The LCHADD Mouse Model Recapitulates Early-Stage Chorioretinopathy in LCHADD Patients. Invest Ophthalmol Vis Sci. Jun 3 2024;65(6):33. doi:10.1167/iovs.65.6.33

2. Chung H, Choi D, Gregor A, Sim E, Lau A, Black D, Scanga HL, Linshinski A, Pennesi ME, Sahel JA, Nischal KK, Yang P, Everett L, Vockley J, Matern D, Harding CO, Gillingham MB. Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD). J Inherit Metab Dis. Jul 2025;48(4):e70060. doi:10.1002/jimd.70060

3. DeVine T, Elizondo G, Gaston G, Babcock SJ, Matern D, Shchepinov MS, Pennesi ME, Harding CO, Gillingham MB. iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector. Invest Ophthalmol Vis Sci. Sep 3 2024;65(11):22. doi:10.1167/iovs.65.11.22

4. Eke C, Babcock S, Gaston G, Elizondo G, Chung H, Asal A, Chatfield KC, Sparagna GC, DeBarber AE, Packwood W, Lindner JR, Gillingham MB. Cardiomyopathy in a c.1528G>C Hadha mouse is associated with cardiac tissue lipotoxicity and altered cardiolipin species. J Lipid Res. May 2025;66(5):100792. doi:10.1016/j.jlr.2025.100792

5. Elizondo G, Saini A, Gonzalez de Alba C, Gregor A, Harding CO, Gillingham MB, Vinocur JM. Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency. Genet Med. Mar 16 2024;26(6):101123. doi:10.1016/j.gim.2024.101123

6. Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy. J Inherit Metab Dis. Apr 16 2024;doi:10.1002/jimd.12738

7. Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. A proposal for an updated staging system for LCHADD retinopathy. Ophthalmic Genet. Jan 30 2024:1-7. doi:10.1080/13816810.2024.2303682

8. Wongchaisuwat N, Wang J, Yang P, Everett L, Gregor A, Sahel JA, Nischal KK, Pennesi ME, Gillingham MB, Jia Y. Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). American Journal of Ophthalmology Case Reports. 2023/12/01/ 2023;32:101958. doi:10.1016/j.ajoc.2023.101958

9. Gregor A, Delerive P, Cuenoud B, Monnard I, Redeuil K, Harding CO, Gillingham MB. D-BHB supplementation before moderate-intensity exercise suppresses lipolysis and selectively blunts exercise-induced long-chain acylcarnitine increase in pilot study of patients with long-chain fatty acid oxidation disorders. Molecular Genetics and Metabolism. accepted 2/20/2025 2025;

10. Gregor AN, Black D, Wongchaisuwat N, Pennesi ME, Gillingham MB. Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD). Mol Genet Metab Rep. Dec 2024;41:101171. doi:10.1016/j.ymgmr.2024.101171

11. DeLany JP, Horgan A, Gregor A, Vockley J, Harding CO, Gillingham MB. Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs). Mol Genet Metab. 2023 Jan 18;138(3):107519. doi:10.1016/j.ymgme.2023.107519. [Epub ahead of print] PubMed [citation] PMID: 36696737

12. Gaston G, Gangoiti JA, Winn S, Chan B, Barshop BA, Harding CO, Gillingham MB. Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride. J Inherit Metab Dis. 2020 Nov;43(6):1232-1242. doi:10.1002/jimd.12284. Epub 2020 Aug 4. PubMed [citation] PMID: 33448436

13. Elizondo G, Matern D, Vockley J, Harding CO, Gillingham MB. Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD. Mol Genet Metab. 2020 Sep - Oct;131(1-2):90-97. doi:10.1016/j.ymgme.2020.09.001. Epub 2020 Sep 6. PubMed [citation] PMID: 32928639, PMCID: PMC8048763

14. Gillingham MB, Elizondo G, Behrend A, Matern D, Schoeller DA, Harding CO, Purnell JQ. Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long-chain fatty acid oxidation disorders. J Inherit Metab Dis. 2019 Sep;42(5):857-869. doi:10.1002/jimd.12155. Epub 2019 Jul 24. PubMed [citation] PMID: 31295363, PMCID: PMC7452215

15. McCoin CS, Gillingham MB, Knotts TA, Vockley J, Ono-Moore KD, Blackburn ML, Norman JE, Adams SH. Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders. Physiol Rep. 2019 Mar;7(6):e14037. doi: 10.14814/phy2.14037. PubMed [citation] PMID: 30912279, PMCID: PMC6434073

16. Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4. PubMed [citation] PMID: 28871440, PMCID: PMC6545116

17. Boese EA, Jain N, Jia Y, Schlechter CL, Harding CO, Gao SS, Patel RC, Huang D, Weleber RG, Gillingham MB, Pennesi ME. Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. Ophthalmology. 2016 Oct;123(10):2183-95. doi:10.1016/j.ophtha.2016.06.048. Epub 2016 Aug 2. PubMed [citation] PMID: 27491397, PMCID: PMC5035590

18. McCoin CS, Piccolo BD, Knotts TA, Matern D, Vockley J, Gillingham MB, Adams SH. Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation. J Inherit Metab Dis. 2016 May;39(3):399-408. doi: 10.1007/s10545-016-9915-3. Epub 2016 Feb 23. PubMed [citation] PMID: 26907176, PMCID: PMC4851894

19. Martin JM, Gillingham MB, Harding CO. Use of propofol for short duration procedures in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiencies. Mol Genet Metab. 2014 Jun;112(2):139-42. doi: 10.1016/j.ymgme.2014.03.012. Epub 2014 Apr 6. PubMed [citation] PMID: 24780638, PMCID: PMC4121654

20. Gillingham MB, Harding CO, Schoeller DA, Matern D, Purnell JQ. Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder. Am J Physiol Endocrinol Metab. 2013 Nov 15;305(10):E1299-308. doi: 10.1152/ajpendo.00225.2013. Epub 2013 Sep 24. PubMed [citation] PMID: 24064340, PMCID: PMC3840216

21. Fletcher AL, Pennesi ME, Harding CO, Weleber RG, Gillingham MB. Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Genet Metab. 2012 May;106(1):18-24. doi: 10.1016/j.ymgme.2012.02.015. Epub 2012 Mar 8. Review. PubMed [citation] PMID: 22459206, PMCID: PMC3506186

22. Behrend AM, Harding CO, Shoemaker JD, Matern D, Sahn DJ, Elliot DL, Gillingham MB. Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation. Mol Genet Metab. 2012 Jan;105(1):110-5. doi:10.1016/j.ymgme.2011.09.030. Epub 2011 Oct 1. PubMed [citation] PMID: 22030098, PMCID: PMC3253922

23. Gillingham MB, Matern D, Harding CO. Effect of feeding, exercise and genotype on plasma 3-hydroxyacylcarnitines in children with LCHAD deficiency. Top Clin Nutr. 2009 Oct;24(4):359-365. PubMed [citation] PMID: 20589231, PMCID: PMC2892921

24. Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2007 Jan;90(1):64-9. Epub 2006 Sep 22. PubMed [citation] PMID: 16996288, PMCID: PMC2813195

25. Gillingham MB, Scott B, Elliott D, Harding CO. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2006 Sep-Oct;89(1-2):58-63. Epub 2006 Jul 27. PubMed [citation] PMID: 16876451, PMCID: PMC2706834

26. Gillingham MB, Weleber RG, Neuringer M, Connor WE, Mills M, van Calcar S, Ver Hoeve J, Wolff J, Harding CO. Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genet Metab. 2005 Sep-Oct;86(1-2):124-33. Epub 2005 Jul 22. PubMed [citation] PMID: 16040264, PMCID: PMC2694051

27. Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding CO. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2003 Jun;79(2):114-23. PubMed [citation] PMID: 12809642, PMCID: PMC2813192

MitoAction Expert Series Talks

Below are links to previously recorded presentations on MitoAction.org.

September 14, 2022 - Cardiac Complications with LCHADD

October 5, 2022 - LCHADD Retinopathy

November 1, 2023 - LCHADD Retinopathy Update: Moving Toward a Treatment

March 20, 2025 - All About Ketones

Podcast Episodes

Dr. Gillingham joined the Journal of Inherited Metabolic Disease (JIMD) podcast to discuss LCHADD retinopathy and outcomes following early or late diagnosis. Links to the episode via different podcast platforms are below.

Spotify

Apple

Soundcloud