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

Updated: Mar 31, 2021
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
  • Print
Treatment

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. [20] Moreover, patients with MCAD deficiency can replenish their stores of carnitine to compensate for carnitine losses with exercise.

Next:

Consultations

Consider obtaining the following consultations:

  • Biochemical geneticist

  • Nutritionist

Previous
Next:

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. [21]

Previous