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Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy

MedGen UID:
1841329
•Concept ID:
C5830693
•
Disease or Syndrome
Synonym: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY
 
OMIM®: 143450; 620300

Professional guidelines

PubMed

Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
Everard E, Laeremans H, Boemer F, Marie S, Vincent MF, Dewulf JP, Debray FG, De Laet C, Nassogne MC
Eur J Paediatr Neurol 2024 Mar;49:60-65. Epub 2024 Feb 7 doi: 10.1016/j.ejpn.2024.02.003. PMID: 38377647
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article

Recent clinical studies

Etiology

A proposal for an updated staging system for LCHADD retinopathy.
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
Ophthalmic Genet 2024 Apr;45(2):140-146. Epub 2024 Jan 30 doi: 10.1080/13816810.2024.2303682. PMID: 38288966Free PMC Article
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S
Ann Clin Transl Neurol 2024 Apr;11(4):883-898. Epub 2024 Jan 23 doi: 10.1002/acn3.52002. PMID: 38263760Free PMC Article
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
Jankowski M, Daca-Roszak P, Obracht-Prondzyński C, Płoski R, Lipska-Ziętkiewicz BS, Ziętkiewicz E
J Appl Genet 2022 Dec;63(4):691-701. Epub 2022 Aug 15 doi: 10.1007/s13353-022-00713-z. PMID: 35971028Free PMC Article
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S
J Inherit Metab Dis 2022 Jul;45(4):819-831. Epub 2022 May 5 doi: 10.1002/jimd.12503. PMID: 35403730Free PMC Article
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Boese EA, Jain N, Jia Y, Schlechter CL, Harding CO, Gao SS, Patel RC, Huang D, Weleber RG, Gillingham MB, Pennesi ME
Ophthalmology 2016 Oct;123(10):2183-95. Epub 2016 Aug 2 doi: 10.1016/j.ophtha.2016.06.048. PMID: 27491397Free PMC Article

Diagnosis

A proposal for an updated staging system for LCHADD retinopathy.
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
Ophthalmic Genet 2024 Apr;45(2):140-146. Epub 2024 Jan 30 doi: 10.1080/13816810.2024.2303682. PMID: 38288966Free PMC Article
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
Jankowski M, Daca-Roszak P, Obracht-Prondzyński C, Płoski R, Lipska-Ziętkiewicz BS, Ziętkiewicz E
J Appl Genet 2022 Dec;63(4):691-701. Epub 2022 Aug 15 doi: 10.1007/s13353-022-00713-z. PMID: 35971028Free PMC Article
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S
J Inherit Metab Dis 2022 Jul;45(4):819-831. Epub 2022 May 5 doi: 10.1002/jimd.12503. PMID: 35403730Free PMC Article
Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
Yang J, Yuan D, Tan X, Zeng Y, Tang N, Chen D, Tan J, Cai R, Huang J, Yan T
Mol Med Rep 2022 Feb;25(2) Epub 2021 Dec 8 doi: 10.3892/mmr.2021.12563. PMID: 34878152Free PMC Article
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Boese EA, Jain N, Jia Y, Schlechter CL, Harding CO, Gao SS, Patel RC, Huang D, Weleber RG, Gillingham MB, Pennesi ME
Ophthalmology 2016 Oct;123(10):2183-95. Epub 2016 Aug 2 doi: 10.1016/j.ophtha.2016.06.048. PMID: 27491397Free PMC Article

Therapy

A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report.
Preusse M, Paraschaki G, Lutz S
Neuropediatrics 2022 Jun;53(3):213-216. Epub 2022 Jan 28 doi: 10.1055/s-0042-1742305. PMID: 35098523
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.
Madsen KL, Stemmerik MG, Buch AE, Poulsen NS, Lund AM, Vissing J
J Clin Endocrinol Metab 2019 Sep 1;104(9):3610-3613. doi: 10.1210/jc.2019-00453. PMID: 30990523
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
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
J Inherit Metab Dis 2017 Nov;40(6):831-843. Epub 2017 Sep 4 doi: 10.1007/s10545-017-0085-8. PMID: 28871440Free PMC Article
Transient central diabetes insipidus induced by ketamine infusion.
Hatab SZ, Singh A, Felner EI, Kamat P
Ann Pharmacother 2014 Dec;48(12):1642-5. Epub 2014 Sep 15 doi: 10.1177/1060028014549991. PMID: 25225198
Severe combined immunodeficiency resulting from mutations in MTHFD1.
Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, Watkins D, Rosenblatt DS, Orange JS
Pediatrics 2013 Feb;131(2):e629-34. Epub 2013 Jan 6 doi: 10.1542/peds.2012-0899. PMID: 23296427

Prognosis

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S
Ann Clin Transl Neurol 2024 Apr;11(4):883-898. Epub 2024 Jan 23 doi: 10.1002/acn3.52002. PMID: 38263760Free PMC Article
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Shahrokhi M, Shafiei M, Galehdari H, Shariati G
Arch Iran Med 2017 Jan;20(1):22-27. PMID: 28112527
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Boese EA, Jain N, Jia Y, Schlechter CL, Harding CO, Gao SS, Patel RC, Huang D, Weleber RG, Gillingham MB, Pennesi ME
Ophthalmology 2016 Oct;123(10):2183-95. Epub 2016 Aug 2 doi: 10.1016/j.ophtha.2016.06.048. PMID: 27491397Free PMC Article
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M
J Inherit Metab Dis 2005;28(4):533-44. doi: 10.1007/s10545-005-0533-8. PMID: 15902556

Clinical prediction guides

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
Yang J, Yuan D, Tan X, Zeng Y, Tang N, Chen D, Tan J, Cai R, Huang J, Yan T
Mol Med Rep 2022 Feb;25(2) Epub 2021 Dec 8 doi: 10.3892/mmr.2021.12563. PMID: 34878152Free PMC Article
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T
Nutrients 2021 Aug 24;13(9) doi: 10.3390/nu13092925. PMID: 34578803Free PMC Article
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Shahrokhi M, Shafiei M, Galehdari H, Shariati G
Arch Iran Med 2017 Jan;20(1):22-27. PMID: 28112527
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, Amaral AU, Wajner M
FEBS J 2015 Dec;282(24):4714-26. Epub 2015 Oct 12 doi: 10.1111/febs.13526. PMID: 26408230
Muscle MRI in patients with long-chain fatty acid oxidation disorders.
Diekman EF, van der Pol WL, Nievelstein RA, Houten SM, Wijburg FA, Visser G
J Inherit Metab Dis 2014 May;37(3):405-13. Epub 2013 Dec 5 doi: 10.1007/s10545-013-9666-3. PMID: 24305961

Recent systematic reviews

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fraser H, Geppert J, Johnson R, Johnson S, Connock M, Clarke A, Taylor-Phillips S, Stinton C
Orphanet J Rare Dis 2019 Nov 15;14(1):258. doi: 10.1186/s13023-019-1226-y. PMID: 31730477Free PMC Article
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222

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