Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management

1. Gregersen N, Lauritzen R, Rasmussen K. Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. Clin Chim Acta. 1976 Aug 2. 70(3):417-25. [QxMD MEDLINE Link].

2. Gregersen N, Wintzensen H, Christensen SK, et al. C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res. 1982 Oct. 16(10):861-8. [QxMD MEDLINE Link].

3. Stanley CA, Hale DE, Coates PM, et al. Medium-chain acyl-CoA dehydrogenase deficiency in children with non- ketotic hypoglycemia and low carnitine levels. Pediatr Res. 1983 Nov. 17(11):877-84. [QxMD MEDLINE Link].

4. Maier EM, Liebl B, Roschinger W, et al. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005 May. 25(5):443-52. [QxMD MEDLINE Link].

5. Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. Hum Mol Genet. 2009 May 1. 18(9):1612-23. [QxMD MEDLINE Link]. [Full Text].

6. Schuck PF, Ferreira GC, Moura AP, et al. Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain. Neurochem Int. 2009 Jul. 54(8):519-25. [QxMD MEDLINE Link].

7. Sauer SW, Okun JG, Hoffmann GF, Koelker S, Morath MA. Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. Biochim Biophys Acta. 2008 Oct. 1777(10):1276-82. [QxMD MEDLINE Link].

8. van Eunen K, Volker-Touw CM, Gerding A, Bleeker A, Wolters JC, van Rijt WJ, et al. Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders. BMC Biol. 2016 Dec 7. 14 (1):107. [QxMD MEDLINE Link].

9. Oerton J, Khalid JM, Besley G, Dalton RN, Downing M, Green A, et al. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. J Med Screen. 2011. 18(4):173-81. [QxMD MEDLINE Link]. [Full Text].

10. Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, et al. Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. J Inherit Metab Dis. 2010 Jun 22. [QxMD MEDLINE Link].

11. Rhead WJ. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inherit Metab Dis. 2006 Apr-Jun. 29(2-3):370-7. [QxMD MEDLINE Link].

12. Gramer G, Haege G, Fang-Hoffman J, et al. Medium-chain acyl-coA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening. JIMD Rep. May 2015. 23:101-112. [QxMD MEDLINE Link].

13. Touw CM, Smit GP, de Vries M, et al. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet J Rare Dis. 2012 May 25. 7:30. [QxMD MEDLINE Link]. [Full Text].

14. Aksglaede L, Christensen M, Olesen JH, et al. Abnormal screening in a healthy infant of a mother with undiagnosed medium-chain acyl-coA dehydrogenase deficiency. JIMD Rep. March 2015. 23:67-70. [QxMD MEDLINE Link].

15. Gartner V, McGuire PJ, Lee PR. Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015 Jul 28. 85 (4):e37-40. [QxMD MEDLINE Link].

16. Baruteau J, Sachs P, Broue P, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects:. J Inherit Metab Dis. September 2013. 36:795-803. [QxMD MEDLINE Link].

17. Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, et al. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. Orphanet J Rare Dis. 2013 Jul 10. 8:102. [QxMD MEDLINE Link].

18. Waddell L, Wiley V, Carpenter K, et al. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab. 2006 Jan. 87(1):32-9. [QxMD MEDLINE Link].

19. Santos L, Patterson A, Moreea SM, et al. Acute liver failure in pregnancy associated with maternal MCAD deficiency. J Inherit Metab Dis. 2007 Feb. 30(1):103. [QxMD MEDLINE Link].

20. Huidekoper HH, Schneider J, Westphal T, et al. Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. J Inherit Metab Dis. 2006 Oct. 29(5):631-6. [QxMD MEDLINE Link].

21. Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol. 2006 Sep. 13(9):923-9. [QxMD MEDLINE Link].

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.

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.

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

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