Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Follow-up

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

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.

Next:

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.

Previous
Next:

Inpatient & Outpatient Medications

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

Previous
Next:

Transfer

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

Previous
Next:

Deterrence/Prevention

Strategies include the following:

  • Avoidance of fatty foods

  • Early treatment and blood glucose support during intercurrent illness

Previous
Next:

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.

Previous
Next:

Prognosis

Prognosis is difficult because of the broad clinical spectrum among affected patients.

When appropriately treated, most children have a good prognosis.(Anderson DR, Viau K, Botto, LD, et al. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2020; 129:13-19)

Experience is too limited to predict life span, although with expanded newborn screening in most developed countries it is becoming clear that a normal lifespan may be predictable with good care.

Previous
Next:

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.

Previous