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Xu, C. Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4565 (accessed on 29 September 2026).
Xu C. Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4565. Accessed September 29, 2026.
Xu, Camila. "Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4565 (accessed September 29, 2026).
Xu, C. (2020, December 24). Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4565
Xu, Camila. "Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency." Encyclopedia. Web. 24 December, 2020.
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) 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. den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA.Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics. 2002 Jan;109(1):99-104.
  3. Fahnehjelm KT, Holmström G, Ying L, Haglind CB, Nordenström A, Halldin M, Alm J, Nemeth A, von Döbeln U. Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study withlong-term follow-up. Acta Ophthalmol. 2008 May;86(3):329-37.Erratum in: Acta Ophthalmol. 2008 Jun;86(4):466.
  4. 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.
  5. 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.
  6. Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu RevPhysiol. 2002;64:477-502. Review.
  7. Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B,Shapiro S, Strauss AW. The molecular basis of pediatric long chain3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fattyliver of pregnancy. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):841-5.
  8. 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.
  9. Tyni T, Paetau A, Strauss AW, Middleton B, Kivelä T. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy oflong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 2004Nov;56(5):744-50.
  10. Tyni T, Pihko H. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ActaPaediatr. 1999 Mar;88(3):237-45. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 658
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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