Course : MOC Part IV: Management of Patients with MCAD Deficiency

MCAD (medium chain acyl-CoA dehydrogenase) deficiency is one of the most common inborn errors of metabolism. Affected individuals are unable to metabolize medium chain fat efficiently. During stressful fasting (such as during intercurrent illnesses) they are at risk for medical problems including hypoglycemia, liver dysfunction, Reyes-like disorder, brain damage or death. There is emerging evidence that patients with more severe mutations may be at increased risk for poor outcome.

 

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