Research & Literature

Deregulation of mitochondrial functions provoked by long-chain fatty acid accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial permeability transition deficiencies in rat heart--mitochondrial permeability transition pore opening as a potential contributing pathomechanism of cardiac alterations in these disorders.

Cecatto C, Hickmann FH, Rodrigues MD, et al.

The FEBS journal 2015; (282(24)):4714-26 doi:10.1111/febs.13526.

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

De Biase I, Viau KS, Liu A, et al.

JIMD reports 2017; (31()):63-71 doi:10.1007/8904_2016_558.

An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?

Erdol S, Ture M, Baytan B, et al.

Journal of pediatric hematology/oncology 2016; (38(8)):661-662 doi:10.1097/MPH.0000000000000626.

Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.

Yamamoto Y, Matsui N, Hiramatsu Y, et al.

Rinsho shinkeigaku = Clinical neurology 2017; (57(2)):82-87 doi:10.5692/clinicalneurol.cn-000976.

Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Kwiatkowska J, Wierzba J, Karaszewska A, et al.

Cardiology journal 2017; (24(1)):101-104 doi:10.5603/CJ.2017.0009.

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.

Fu X, Zheng F, Zhang Y, et al.

Molecular genetics and metabolism reports 2015; (5()):80-84 doi:10.1016/j.ymgmr.2015.10.015.

Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.

Natarajan SK, Ibdah JA

International journal of molecular sciences 2018; (19(1)) doi:10.3390/ijms19010322.

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.

Hagenbuchner J, Scholl-Buergi S, Karall D, Ausserlechner MJ

Scientific reports 2018; (8(1)):3254 doi:10.1038/s41598-018-21519-2.

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

El-Gharbawy A, Vockley J

Pediatric clinics of North America 2018; (65(2)):317-335 doi:10.1016/j.pcl.2017.11.006.

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.

Watanabe K, Yamada K, Sameshima K, Yamaguchi S

Molecular genetics and metabolism reports 2018; (15()):121-123 doi:10.1016/j.ymgmr.2018.03.007.

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Lotz-Havla AS, Röschinger W, Schiergens K, et al.

Orphanet journal of rare diseases 2018; (13(1)):122 doi:10.1186/s13023-018-0875-6.

Ketogenic and anaplerotic dietary modifications ameliorate seizure activity in Drosophila models of mitochondrial encephalomyopathy and glycolytic enzymopathy.

Fogle KJ, Smith AR, Satterfield SL, et al.

Molecular genetics and metabolism 2019; (126(4)):439-447 doi:10.1016/j.ymgme.2019.01.008.

Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.

de Moraes MS, Guerreiro G, Sitta A, et al.

Archives of biochemistry and biophysics 2020; (679()):108206 doi:10.1016/j.abb.2019.108206.

Therapeutic potential of triheptanoin in metabolic and neurodegenerative diseases.

Wehbe Z, Tucci S

Journal of inherited metabolic disease 2020; (43(3)):385-391 doi:10.1002/jimd.12199.

Clinical manifestations and management of fatty acid oxidation disorders.

Merritt JL, MacLeod E, Jurecka A, Hainline B

Reviews in endocrine & metabolic disorders 2020; (21(4)):479-493 doi:10.1007/s11154-020-09568-3.

Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.

Ribas GS, Vargas CR

Cellular and molecular neurobiology 2022; (42(3)):521-532 doi:10.1007/s10571-020-00955-7.

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.

Khani M, Taheri H, Shamshiri H, et al.

Journal of neurology 2021; (268(2)):640-650 doi:10.1007/s00415-020-10171-4.

Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health.

Miklas JW, Ruohola-Baker H

Journal of cellular signaling 2020; (1(3)):97-101 doi:10.33696/signaling.1.018.

Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

Norris MK, Scott AI, Sullivan S, et al.

JPEN. Journal of parenteral and enteral nutrition 2021; (45(2)):230-238 doi:10.1002/jpen.2034.

Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

Dulz S, Atiskova Y, Engel P, et al.

Ophthalmic genetics 2021; (42(1)):23-27 doi:10.1080/13816810.2020.1836658.

Risk of recurrent acute fatty liver of pregnancy: survey from a social media group.

Glavind J, Boie S, Glavind E, Fuglsang J

American journal of obstetrics & gynecology MFM 2020; (2(2)):100085 doi:10.1016/j.ajogmf.2020.100085.

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.

Rigaudière F, Delouvrier E, Le Gargasson JF, et al.

Documenta ophthalmologica. Advances in ophthalmology 2021; (142(3)):371-380 doi:10.1007/s10633-020-09802-y.

Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders.

Zöggeler T, Stock K, Jörg-Streller M, et al.

Orphanet journal of rare diseases 2021; (16(1)):28 doi:10.1186/s13023-020-01635-x.

Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long-chain fatty acid oxidation disorders: FDA approval summary.

Zand D, Doan J, Yi S, et al.

Journal of inherited metabolic disease 2021; (44(3)):515-517 doi:10.1002/jimd.12377.

Acute fatty liver of pregnancy causes severe acute pancreatitis and stillborn fetus: A case report.

Ye R, Mai Z, Pan X, et al.

Medicine 2021; (100(16)):e25524 doi:10.1097/MD.0000000000025524.

Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.

Alatibi KI, Tholen S, Wehbe Z, et al.

International journal of molecular sciences 2021; (22(19)) doi:10.3390/ijms221910556.

Acute Fatty Liver of Pregnancy.

Ademiluyi A, Amakye DO, Jackson N, Betty S

The American journal of case reports 2021; (22()):e933252 doi:10.12659/AJCR.933252.

Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Knapp A, Jagła M, Madetko-Talowska A, et al.

American journal of medical genetics. Part A 2022; (188(6)):1848-1852 doi:10.1002/ajmg.a.62696.

Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.

Vockley J, Enns GM, Ramirez AN, et al.

Molecular genetics and metabolism 2022; (136(2)):152-162 doi:10.1016/j.ymgme.2022.04.001.

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.

Lim CC, Vockley J, Ujah O, et al.

Molecular genetics and metabolism reports 2022; (32()):100884 doi:10.1016/j.ymgmr.2022.100884.

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.

Dessein AF, Hebbar E, Vamecq J, et al.

Molecular genetics and metabolism reports 2022; (31()):100860 doi:10.1016/j.ymgmr.2022.100860.

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Ambrose A, Sheehan M, Bahl S, et al.

Orphanet journal of rare diseases 2022; (17(1)):360 doi:10.1186/s13023-022-02512-5.

An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.

Zhang Q, Yao N, Liu Z, et al.

The American journal of forensic medicine and pathology 2023; (44(4)):336-339 doi:10.1097/PAF.0000000000000872.

Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.

Schwantje M, Grünert SC, Fuchs SA

Orphanet journal of rare diseases 2024; (19(1)):21 doi:10.1186/s13023-024-03024-0.

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Mütze U, Ottenberger A, Gleich F, et al.

Annals of clinical and translational neurology 2024; (11(4)):883-898 doi:10.1002/acn3.52002.

A proposal for an updated staging system for LCHADD retinopathy.

Wongchaisuwat N, Gillingham MB, Yang P, et al.

Ophthalmic genetics 2024; (45(2)):140-146 doi:10.1080/13816810.2024.2303682.

Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.

Yang E, Kruger E, Yin D, et al.

Molecular genetics and metabolism 2024; (142(1)):108350 doi:10.1016/j.ymgme.2024.108350.

Ophthalmic Symptoms of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Report of Three Cases.

Lange N, Bodetko AM, Mozrzymas R, Kowal-Lange A

Case reports in ophthalmology 2024; (15(1)):310-319 doi:10.1159/000537895.

[Newborn screening in France: news and perspectives].

Gernez E, Roland E, Dhaenens CM, et al.

Annales de biologie clinique 2024; (82(1)):24-31 doi:10.1684/abc.2024.1869.

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.

Penkl M, Mayr JA, Feichtinger RG, et al.

Metabolites 2024; (14(4)) doi:10.3390/metabo14040238.

Nutritional Management of Patients with Fatty Acid Oxidation Disorders.

Peña-Quintana L, Correcher-Medina P

Nutrients 2024; (16(16)) doi:10.3390/nu16162707.

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.

DeVine T, Elizondo G, Gaston G, et al.

Investigative ophthalmology & visual science 2024; (65(11)):22 doi:10.1167/iovs.65.11.22.

The risk of recurrence of acute fatty liver of pregnancy - a review of the current literature.

Morton A, Phillips L, Nisbet J, He JW

Obstetric medicine 2025; (18(4)):210-213 doi:10.1177/1753495X251317259.

A Focus on the Role of Dietary Treatment in the Prevention of Retinal Dysfunction in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Systematic Review.

Maines E, Gugelmo G, Vitturi N, et al.

Children (Basel, Switzerland) 2025; (12(3)) doi:10.3390/children12030374.

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Köse E, İnci A, Yazıcı H, et al.

European journal of pediatrics 2025; (184(6)):382 doi:10.1007/s00431-025-06216-3.

Acute Fatty Liver in Pregnancy: Literature Review.

Zarni S, Viegas A

Cureus 2025; (17(10)):e94576 doi:10.7759/cureus.94576.

Second Episode of Rhabdomyolysis: A Case Report.

Ohns MJ, Wolfe B

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):e119-e124 doi:10.1016/j.pedhc.2025.11.027.

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

Preisner F, Garbade SF, Grünert SC, et al.

Investigative radiology 2026; doi:10.1097/RLI.0000000000001274.

Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review.

Varotsis D, Araji S, Horgan R, et al.

O&G open 2026; (3(1)):e148 doi:10.1097/og9.0000000000000148.