Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency Differential Diagnoses

1. IJlst L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta. 1994 Dec 8. 1215(3):347-50. [QxMD MEDLINE Link]. [Full Text].

2. Sewell AC, Bender SW, Wirth S, Munterfering H, Ijlist L, Wanders RJ. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. Eur J Pediatr. 1994 Oct. 153(10):745-50. [QxMD MEDLINE Link]. [Full Text].

3. Jackson S, Bartlett K, Land J, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 1991 Apr. 29(4 Pt 1):406-11. [QxMD MEDLINE Link]. [Full Text].

4. Wanders RJ, IJlst L, van Gennip AH, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis. 1990. 13(3):311-4. [QxMD MEDLINE Link]. [Full Text].

5. Cecatto C, Wajner A, Vargas CR, Wajner SM, Amaral AU, Wajner M. High vulnerability of the heart and liver to 3‐hydroxypalmitic acid–induced disruption of mitochondrial functions in intact cell systems. J Cell Biochem. 2018 Jun 20. 19(9):7678-7686. [QxMD MEDLINE Link]. [Full Text].

6. Cecatto C, Godoy KDS, da Silva JC, Amaral AU, Wajner M. Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle. Toxicol In Vitro. 2016 Jun 29. 36:1-9. [QxMD MEDLINE Link]. [Full Text].

7. Amaral AU, Cecatto C, da Silva JC, Wajner A, Wajner M. Mechanistic bases of neurotoxicity provoked by fatty acids accumulating in MCAD and LCHAD deficiencies. J Inborn Errors of Metabolism and Screening. 2017 Apr 11. 5:1-7. [Full Text].

8. Haglind CB, Nordenström A, Ask S, von Döbeln U, Gustafsson J, Stenlid MH. Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. J Inherit Metab Dis. 2015 March. 38(2):315-322. [QxMD MEDLINE Link]. [Full Text].

9. Amirkhan RH, Timmons CF, Brown KO, Weinberger MJ, Bennett MJ. Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Arch Pathol Lab Med. 1997 Jul. 121(7):730-4. [QxMD MEDLINE Link].

10. Tyni T, Pihko H. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr. 1999 Mar. 88(3):237-245. [QxMD MEDLINE Link]. [Full Text].

11. Barvinska O, Olkhovych N, Gorovenko N,. High Prevalence of c.1528G>C rearrangement in patients with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency from Ukraine. Cytology and Genetics. 2018. 52(3):198-203. [Full Text].

12. Nedoszytko B, Siemińska A, Strapagiel D, Dąbrowski S, Słomka M, Sobalska-Kwapis M, et al. High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland. PLoS One. 2017 Nov 2. 12(11):e0187365. [QxMD MEDLINE Link]. [Full Text].

13. Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, et al. Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet J Rare Dis. 2015 Feb 22. 10:21. [QxMD MEDLINE Link]. [Full Text].

14. Natarajan SK, Ibdah JA. Role of 3-hydroxy fatty acid-induced hepatic lipotoxicity in acute fatty liver of pregnancy. Int. J. of Mol. Sci. 2018 Jan 22. 19:322. [QxMD MEDLINE Link]. [Full Text].

15. Herbozo C, Church P, Ng E. Case 1: A newborn infant with cardiac arrest. Paediatr Child Health. 2016 Mar. 21(2):67-69. [QxMD MEDLINE Link]. [Full Text].

16. Pons R, Roig M, Riudor E, et al. The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Neurol. 1996 Apr. 14(3):236-43. [QxMD MEDLINE Link]. [Full Text].

17. Rocchiccioli F, Wanders RJ, Aubourg P, et al. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res. 1990 Dec. 28(6):657-62. [QxMD MEDLINE Link].

18. Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2013 May. 109(1):21-7. [QxMD MEDLINE Link]. [Full Text].

19. Bertini E, Dionisi-Vici C, Garavaglia B, et al. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr. 1992 Feb. 151(2):121-6. [QxMD MEDLINE Link].

20. Lawlor DP, Kalina RE. Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Ophthalmol. 1997 Jun. 123(6):846-8. [QxMD MEDLINE Link]. [Full Text].

21. Dyke PC, Konczal L, Bartholomew D, McBride KL, Hoffman TM. Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase. Pediatr Cardiol. 2009 May. 30(4):523-6. [QxMD MEDLINE Link]. [Full Text].

22. Erdol S, Ture M, Baytan B, Yakut T, Saglam H. An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?. J Pediatr Hematol Oncol. 2016 Nov. 38(8):661-662. [QxMD MEDLINE Link]. [Full Text].

23. 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. [QxMD MEDLINE Link]. [Full Text].

24. Strandqvist A, Haglind CB, Zetterström RH, Nemeth A, von Döbeln U, Stenlid MH, et al. Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. JIMD Rep. 2015 Nov 7. 28:75-84. [QxMD MEDLINE Link]. [Full Text].

25. Tyni T, Majander A, Kalimo H, Rapola J, Pihko H. Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. Neuromuscul Disord. 1996 Oct. 6(5):327-37. [QxMD MEDLINE Link]. [Full Text].

26. Olpin SE, Clark S, Andresen BS, et al. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J Inherit Metab Dis. 2005. 28(4):533-44. [QxMD MEDLINE Link]. [Full Text].

27. Stopek D, Gitteau Lala E, Labarthe F, et al. [Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. J Fr Ophtalmol. 2008 Dec. 31(10):993-8. [QxMD MEDLINE Link]. [Full Text].

28. El-Gharbawy A, Vockley J. Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and the carnitine shuttle system. Pediatr Clin North Am. 2018 Apr. 65(2):317-335. [QxMD MEDLINE Link]. [Full Text].

29. Raval DB, Cusmano-Ozog KP, Ayyub O, Jenevein C, Kofman LH, Lanpher B, et al. Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis. Mol Genet Metab Rep. 2017 Mar. 10:8-10. [QxMD MEDLINE Link]. [Full Text].

30. Lotz-Havla AS, Röschinger W, Schiergens K, Singer K, Karall D, Konstantopoulou V, et al. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Orphanet J Rare Dis. 2018 Jul 20. 13(1):122. [QxMD MEDLINE Link]. [Full Text].

31. Espinosa-Barberi G, Miranda Fernández S, Valdés Martín ME, Betancor Perdomo MÁ, Aguilar Rosales CJ. Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Int J Ophthalmol. 2018 Oct 18. 11(10):1730–1732. [QxMD MEDLINE Link]. [Full Text].

32. Lin J, Boudreault K, Tsang S. MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY. Retin Cases Brief Rep. 2017 Winter. 11:Suppl 1:S107-S112. [QxMD MEDLINE Link]. [Full Text].

33. Spiekerkoetter U, Lindner M, Santer R, et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. 2009 Apr 29. [QxMD MEDLINE Link]. [Full Text].

34. Tuuli I, Emilia A, Jussi T, Risto L, Tiina T, Leena L. Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency e A follow-up EMG study of 12 patients. Eur J Paediatr Neurol. 2016 Jan. 20(1):38-44. [QxMD MEDLINE Link]. [Full Text].

35. De Biase, I., Viau, K. S., Liu, A., et al. Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. JIMD Rep. 2017. 31:63-71. [QxMD MEDLINE Link]. [Full Text].

36. Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2007 Jan. 90(1):64-9. [QxMD MEDLINE Link]. [Full Text].

37. Gillingham MB, Connor WE, Matern D, et al. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2003 Jun. 79(2):114-23. [QxMD MEDLINE Link]. [Full Text].

38. Roe CR, Roe DS, Wallace M, Garritson B. Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders. Mol Genet Metab. 2007 Dec. 92(4):346-50. [QxMD MEDLINE Link]. [Full Text].

39. Gillingham MB, Scott B, Elliott D, Harding CO. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2006 Sep-Oct. 89(1-2):58-63. [QxMD MEDLINE Link]. [Full Text].

40. Sun A, Merritt II JL. Orphan drugs in development for long-chain fatty acid oxidation disorders: challenges and progress. Orphan Drugs: Research and Reviews. 2015 Apr 28. 5:33-41. [Full Text].

Anna V Blenda, PhD Clinical Associate Professor, Department of Biomedical Sciences, University of South Carolina School of Medicine, Greenville

Anna V Blenda, PhD is a member of the following medical societies: American Association for Cancer Research, American College of Medical Genetics and Genomics, American Society for Microbiology

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Fernando Scaglia, MD, FACMG Professor of Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital

Fernando Scaglia, MD, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for the Study of Inborn Errors of Metabolism

Disclosure: Nothing to disclose.

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article