eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Follow-up

Author: Karl S Roth, MD, Professor and Chair, Department of Pediatrics, Creighton University School of Medicine
Contributor Information and Disclosures

Updated: Sep 1, 2009

Follow-up

Further Inpatient Care

  • In patients with medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, because of the risk of severe hypoglycemia during fasts, any intercurrent illness that reduces or interrupts food intake may require admission for intravenous glucose support.

Further Outpatient Care

  • Affected individuals require close monitoring of growth to make appropriate dietary changes. A skilled nutritionist should direct such changes.
  • If the condition remains stable, blood studies beyond those required in routine pediatric care are not needed.

Inpatient & Outpatient Medications

  • Other than daily carnitine administration, no medication has been proven effective.

Transfer

  • Transfer is indicated when severe ketoacidosis, coma, seizures, or cerebral edema is present.

Deterrence/Prevention

  • Avoidance of fatty foods
  • Early treatment and blood glucose support during intercurrent illness

Complications

  • Frequent episodes of severe hypoglycemia carry a great risk of adverse effects on CNS integrity.
  • Hypoglycemia and hyperammonemia may cause cerebral edema and prolonged coma.
  • Patients with MCAD deficiency have a tendency to develop prepubertal obesity, which can be exceptionally difficult to treat because of the need for a relatively constant caloric intake to prevent acute decompensation.

Prognosis

  • Prognosis is difficult because of the broad clinical spectrum among affected patients.
  • When appropriately treated, most children have a good prognosis.
  • Experience is too limited to predict life span.

Patient Education

  • Genetic counseling should be provided for family members.
  • The frequency of the homozygous state warrants testing for the gene in first-degree relatives of the affected child.

Miscellaneous

Medicolegal Pitfalls

  • Because medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is common and an increasing number of states now use tandem mass spectrometry to screen newborns, a coincident increase in the legal risk for missed cases is noted. As recommended above, screening first-degree relatives of a newly diagnosed infant is warranted because the ability to screen for this disorder is relatively recent, and the clinical onset may be delayed, even into adulthood.

Special Concerns

  • Retrieval of DNA from preserved specimens or screening samples may assist in diagnosis in deceased siblings.
 


More on Medium-Chain Acyl-CoA Dehydrogenase Deficiency

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References
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References

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Further Reading

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Keywords

medium-chain acyl-coenzyme A dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, MCAD deficiency, medium-chain dicarboxylic aciduria, inborn error of metabolism, beta-oxidation cycle, carnitine palmitoyltransferase deficiency, CPT deficiency, Reye syndrome, fatty acid metabolism, hypoglycemia, hypoketonuria, exaggerated lethargy

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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

Medical Editor

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

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, 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.

 
 
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