U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial trifunctional protein deficiency 1(MTPD1)

MedGen UID:
1053401
•Concept ID:
CN376812
•
Disease or Syndrome
Synonym: MTPD1
 
Gene (location): HADHA (2p23.3)
 
Monarch Initiative: MONDO:0958181
OMIM®: 609015

Authors:

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
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G
J Inherit Metab Dis 2022 Jul;45(4):804-818. Epub 2022 Apr 19 doi: 10.1002/jimd.12502. PMID: 35383965Free PMC Article
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, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM
Orphanet J Rare Dis 2018 Jul 20;13(1):122. doi: 10.1186/s13023-018-0875-6. PMID: 30029694Free PMC Article

Recent clinical studies

Etiology

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
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G
J Inherit Metab Dis 2022 Jul;45(4):804-818. Epub 2022 Apr 19 doi: 10.1002/jimd.12502. PMID: 35383965Free PMC Article
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, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM
Orphanet J Rare Dis 2018 Jul 20;13(1):122. doi: 10.1186/s13023-018-0875-6. PMID: 30029694Free 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
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S373-7. Epub 2010 Sep 3 doi: 10.1007/s10545-010-9190-7. PMID: 20814823

Diagnosis

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
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G
J Inherit Metab Dis 2022 Jul;45(4):804-818. Epub 2022 Apr 19 doi: 10.1002/jimd.12502. PMID: 35383965Free PMC Article
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.
Androudi S, Mataftsi A, Brazitikos P
Ophthalmol Retina 2018 Jan;2(1):74. Epub 2018 Jan 3 doi: 10.1016/j.oret.2017.09.012. PMID: 31047310
Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.
Terrone G, Ruoppolo M, Brunetti-Pierri N, Cozzolino C, Scolamiero E, Parenti G, Romano A, Andria G, Salvatore F, Frisso G
Neurology 2014 Jan 7;82(1):e1-4. doi: 10.1212/01.wnl.0000438217.31437.72. PMID: 24379101
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S373-7. Epub 2010 Sep 3 doi: 10.1007/s10545-010-9190-7. PMID: 20814823

Therapy

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

Prognosis

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM
FASEB J 2024 Feb 29;38(4):e23478. doi: 10.1096/fj.202302163R. PMID: 38372965
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Li Y, He C, Li S, Wang J, Jiang L, Guo Y
Eur J Med Genet 2021 Dec;64(12):104344. Epub 2021 Sep 17 doi: 10.1016/j.ejmg.2021.104344. PMID: 34543737
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
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S373-7. Epub 2010 Sep 3 doi: 10.1007/s10545-010-9190-7. PMID: 20814823

Clinical prediction guides

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM
FASEB J 2024 Feb 29;38(4):e23478. doi: 10.1096/fj.202302163R. PMID: 38372965
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
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, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM
Orphanet J Rare Dis 2018 Jul 20;13(1):122. doi: 10.1186/s13023-018-0875-6. PMID: 30029694Free 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
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S373-7. Epub 2010 Sep 3 doi: 10.1007/s10545-010-9190-7. PMID: 20814823

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...