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.

Erratum.

The FEBS journal 2016; (283(5)):962 doi:10.1111/febs.13666.

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.

Perioperative management of living-donor liver transplantation for methylmalonic acidemia.

Baba C, Kasahara M, Kogure Y, et al.

Paediatric anaesthesia 2016; (26(7)):694-702 doi:10.1111/pan.12930.

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.

Aspirin increases mitochondrial fatty acid oxidation.

Uppala R, Dudiak B, Beck ME, et al.

Biochemical and biophysical research communications 2017; (482(2)):346-351 doi:10.1016/j.bbrc.2016.11.066.

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.

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

Bursle C, Weintraub R, Ward C, et al.

JIMD reports 2018; (40()):91-95 doi:10.1007/8904_2017_68.

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.

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.

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Diebold I, Schön U, Horvath R, et al.

Molecular and cellular probes 2019; (44()):14-20 doi:10.1016/j.mcp.2019.01.003.

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.

Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.

Liu ZR, Dong HL, Ma Y, Wu ZY

Mitochondrion 2019; (49()):200-205 doi:10.1016/j.mito.2019.09.004.

Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.

Nadjar Y, Souvannanorath S, Maisonobe T, et al.

Revue neurologique 2020; (176(5)):380-386 doi:10.1016/j.neurol.2019.11.011.

Perioperative management of children with urea cycle disorders.

Del Río C, Martín-Hernández E, Ruiz A, et al.

Paediatric anaesthesia 2020; (30(7)):780-791 doi:10.1111/pan.13905.

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.

Suyama T, Shimura M, Fushimi T, et al.

Molecular genetics and metabolism reports 2020; (24()):100610 doi:10.1016/j.ymgmr.2020.100610.

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.

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.

Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids.

Amaral AU, Wajner M

Frontiers in genetics 2020; (11()):598976 doi:10.3389/fgene.2020.598976.

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.

Verkerk AO, Knottnerus SJG, Portero V, et al.

Frontiers in pharmacology 2020; (11()):616834 doi:10.3389/fphar.2020.616834.

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.

MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.

Dagher R, Massie R, Gentil BJ

Molecular genetics and metabolism 2021; (133(1)):1-7 doi:10.1016/j.ymgme.2021.03.010.

Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.

García García LC, Zamorano Martín F, Rocha de Lossada C, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2021; (96(9)):496-499 doi:10.1016/j.oftale.2020.07.013.

Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.

Uzun ÖÜ, Çavdarlı B, Karalök S

The Turkish journal of pediatrics 2021; (63(6)):1097-1102.

Qualitative evaluation of the symptoms and quality of life impacts of long-chain fatty acid oxidation disorders.

Williams-Hall R, Tinsley K, Kruger E, et al.

Therapeutic advances in endocrinology and metabolism 2022; (13()):20420188211065655 doi:10.1177/20420188211065655.

Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study.

Karunanidhi A, Van't Land C, Rajasundaram D, et al.

Journal of inherited metabolic disease 2022; (45(3)):541-556 doi:10.1002/jimd.12480.

Emergency management of critically ill adult patients with inherited metabolic disorders.

Sulaiman RA, Alali A, Hosaini S, et al.

The American journal of emergency medicine 2022; (55()):138-142 doi:10.1016/j.ajem.2022.02.053.

A mitochondrial long-chain fatty acid oxidation defect leads to transfer RNA uncharging and activation of the integrated stress response in the mouse heart.

Ranea-Robles P, Pavlova NN, Bender A, et al.

Cardiovascular research 2022; (118(16)):3198-3210 doi:10.1093/cvr/cvac050.

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Schwantje M, Ebberink MS, Doolaard M, et al.

Journal of inherited metabolic disease 2022; (45(4)):819-831 doi:10.1002/jimd.12503.

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Ørstavik K, Arntzen KA, Mathisen P, et al.

JIMD reports 2022; (63(3)):193-198 doi:10.1002/jmd2.12276.

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, et al.

Molecular genetics and metabolism reports 2022; (31()):100873 doi:10.1016/j.ymgmr.2022.100873.

Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers.

Kruger E, Voorhees K, Thomas N, et al.

Molecular genetics and metabolism reports 2022; (32()):100903 doi:10.1016/j.ymgmr.2022.100903.

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.

Improving diagnosis of mitochondrial fatty-acid oxidation disorders.

Vianey-Saban C, Fouilhoux A, Vockley J, et al.

European journal of human genetics : EJHG 2023; (31(3)):265-272 doi:10.1038/s41431-022-01260-1.

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.

Increased acylcarnitines in infant heart failure indicate fatty acid oxidation inhibition: towards therapeutic options?

Issa J, Lodewyckx P, Blasco H, et al.

ESC heart failure 2023; (10(5)):3114-3122 doi:10.1002/ehf2.14449.

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.

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.

Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.

Everard E, Laeremans H, Boemer F, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (49()):60-65 doi:10.1016/j.ejpn.2024.02.003.

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.

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.

Gillingham MB, Choi D, Gregor A, et al.

Journal of inherited metabolic disease 2024; (47(4)):746-756 doi:10.1002/jimd.12738.

Nutritional Management of Patients with Fatty Acid Oxidation Disorders.

Peña-Quintana L, Correcher-Medina P

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

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.

Al-Amrani F, Ruiter JPN, Doolaard M, et al.

American journal of medical genetics. Part A 2025; (197(2)):e63900 doi:10.1002/ajmg.a.63900.

Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in HADHA Gene.

Abedidoust S, Badv RS, Saliani A, Azari-Yam A

Iranian journal of pathology 2024; (19(3)):355-358 doi:10.30699/IJP.2024.2010490.3163.

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.

Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration.

Su GL, Jeong SY, Wafai D, et al.

PloS one 2025; (20(6)):e0326866 doi:10.1371/journal.pone.0326866.

A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.

Forsyth R, Vockley J

Expert review of clinical pharmacology 2025; (18(7)):449-460 doi:10.1080/17512433.2025.2528835.

Carnitine Deficiency in Chronic Kidney Disease: Pathophysiology, Clinical Implications, and Therapeutic Perspectives.

Kaida Y, Taguchi K, Fukami K

Nutrients 2025; (17(13)) doi:10.3390/nu17132084.

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Balletto G, Barbagallo G, Cataldi M, et al.

Journal of child neurology 2026; (41(2)):252-258 doi:10.1177/08830738251356850.

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.