Medium-Chain Acyl-CoA Dehydrogenase Deficiency Treatment & Management

  • Author: Karl S Roth, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Sep 1, 2009
 

Medical Care

  • A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any fasting period longer than 4-5 hours.
  • Carnitine administration has been advocated on the basis of recognition of the biochemical role of carnitine in permitting conjugation and excretion of toxic intermediates. However, the evidence for any therapeutic effect is sparse and mostly anecdotal.
  • A recent study provides no evidence that supplemental carnitine administration is beneficial in moderate exercise states.[11] Moreover, patients with MCAD deficiency can replenish their stores of carnitine to compensate for carnitine losses with exercise.
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Consultations

  • Biochemical geneticist
  • Nutritionist
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Diet

  • Diet should be adjusted to supply requisite nutrition for normal growth and avoid fasting periods of more than 4-5 hours in infants younger than 6 months. Thereafter, fasting of more than 8 hours should be avoided in infants aged 6-12 months, and fasting of more than 10 hours should be avoided in patients aged 12-24 months. Subsequently, no affected individual should be permitted to fast longer than 12 hours.
  • Because the fundamental biochemical defect is in fatty acid oxidation, the composition of the diet should be adjusted to provide greater caloric density in carbohydrates and proteins and minimize lipids.[12]
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Contributor Information and Disclosures
Author

Karl S Roth, MD  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 Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: MDS Pharma Salary Employment

Specialty Editor Board

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, American Society of Gene Therapy, American Society of Human Genetics, Child Neurology Society, and Society for Inherited Metabolic Disorders

Disclosure: Genzyme Corporation Salary Management position

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD  Professor and Chair of Pediatrics, Stony Brook University, New York

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

Disclosure: Genzyme Grant/research funds PI

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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  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. Nov 1983;17(11):877-84. [Medline].

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