Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Workup

Updated: Mar 31, 2021
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Laboratory Studies

Measurement of serum electrolyte levels may reveal depressed bicarbonate and an anion gap in medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency.

Blood glucose levels are low in asymptomatic individuals, although symptoms may be present prior to onset of hypoglycemia.

Blood ammonia levels may be mildly to moderately elevated.

Urinalysis is helpful in ruling out ketonuria; urine should be submitted for organic acid profile and acylcarnitine excretion pattern.


Other Tests

Molecular genetic testing can identify the nature of the mutation for purposes of prenatal diagnosis.

As suggested by Touw et al, [13] measurement of residual enzyme activity may be of value in prognosis and/or treatment.


Histologic Findings

Liver tissue findings reveal large-droplet steatosis, electron-dense mitochondrial matrices, and increased width of the mitochondrial membrane. These changes are suggestive of a mitochondrial oxidative disorder but are not specific to MCAD deficiency.