Propionic Acidemia: A Rare Cause of Cardiomyopathy

Abstract

The symptoms of propionic acidemia, an autosomal recessive disorder involving deficiency of the enzyme propionyl‐coenzyme A carboxylase, are highly varied and may present at any time in the patient's life. Cardiomyopathy, a rare complication of this disorder, has been reported in only a small number of pediatric patients. The authors describe a case of adult‐onset cardiomyopathy in a 23‐year‐old female with propionic acidemia diagnosed in early childhood and associated with multiple longstanding comorbidities. The possible mechanisms of propionic acidemia‐associated cardiomyopathy, and the importance of early recognition and appropriate management, are discussed.