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Xu, R. Mitochondrial Trifunctional Protein Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4241 (accessed on 28 September 2026).
Xu R. Mitochondrial Trifunctional Protein Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4241. Accessed September 28, 2026.
Xu, Rita. "Mitochondrial Trifunctional Protein Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4241 (accessed September 28, 2026).
Xu, R. (2020, December 23). Mitochondrial Trifunctional Protein Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4241
Xu, Rita. "Mitochondrial Trifunctional Protein Deficiency." Encyclopedia. Web. 23 December, 2020.
Mitochondrial Trifunctional Protein Deficiency
Edit

Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

genetic conditions

References

  1. Angdisen J, Moore VD, Cline JM, Payne RM, Ibdah JA. Mitochondrialtrifunctional protein defects: molecular basis and novel therapeutic approaches. Curr Drug Targets Immune Endocr Metabol Disord. 2005 Mar;5(1):27-40. Review.
  2. Bo R, Yamada K, Kobayashi H, Jamiyan P, Hasegawa Y, Taketani T, Fukuda S, HataI, Niida Y, Shigematsu Y, Iijima K, Yamaguchi S. Clinical and molecularinvestigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. J Hum Genet. 2017 Sep;62(9):809-814. doi:10.1038/jhg.2017.52.
  3. Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N,Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, MunnichA, Saudubray JM, Rabier D, Rigal O, Brivet M. Comprehensive cDNA study andquantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of52 patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab.2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006.
  4. Choi JH, Yoon HR, Kim GH, Park SJ, Shin YL, Yoo HW. Identification of novelmutations of the HADHA and HADHB genes in patients with mitochondrialtrifunctional protein deficiency. Int J Mol Med. 2007 Jan;19(1):81-7.
  5. den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidationdisorder with cardiac and neurologic involvement. J Pediatr. 2003Jun;142(6):684-9.
  6. Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effectsof higher dietary protein intake on energy balance and metabolic control inchildren with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) ortrifunctional protein (TFP) deficiency. Mol Genet Metab. 2007 Jan;90(1):64-9.
  7. Oey NA, den Boer ME, Wijburg FA, Vekemans M, Augé J, Steiner C, Wanders RJ,Waterham HR, Ruiter JP, Attié-Bitach T. Long-chain fatty acid oxidation duringearly human development. Pediatr Res. 2005 Jun;57(6):755-9.
  8. Sperk A, Mueller M, Spiekerkoetter U. Outcome in six patients withmitochondrial trifunctional protein disorders identified by newborn screening.Mol Genet Metab. 2010 Oct-Nov;101(2-3):205-7. doi: 10.1016/j.ymgme.2010.07.003.
  9. Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. Generalmitochondrial trifunctional protein (TFP) deficiency as a result of either alpha-or beta-subunit mutations exhibits similar phenotypes because mutations in eithersubunit alter TFP complex expression and subunit turnover. Pediatr Res. 2004Feb;55(2):190-6.
  10. Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H,Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. 2009 Aug;32(4):488-97.doi: 10.1007/s10545-009-1125-9.
  11. Spiekerkoetter U, Mueller M, Cloppenburg E, Motz R, Mayatepek E, Bueltmann B, Korenke C. Intrauterine cardiomyopathy and cardiac mitochondrial proliferation inmitochondrial trifunctional protein (TFP) deficiency. Mol Genet Metab. 2008Aug;94(4):428-30. doi: 10.1016/j.ymgme.2008.04.002.
  12. Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. Molecular andphenotypic heterogeneity in mitochondrial trifunctional protein deficiency due tobeta-subunit mutations. Hum Mutat. 2003 Jun;21(6):598-607.
  13. Spierkerkoetter U, Khuchua Z, Yue Z, Strauss AW. The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multipletissue involvement. J Inherit Metab Dis. 2004;27(2):294-6.
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Update Date: 23 Dec 2020
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