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Congest Heart Fail. 2001 Jul-Aug;7(4):218-219.

Propionic acidemia: a rare cause of cardiomyopathy.

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Advocate Illinois Masonic Medical Center, Chicago, IL 60657.


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 long-standing comorbidities. The possible mechanisms of propionic acidemia-associated cardiomyopathy, and the importance of early recognition and appropriate management, are discussed.

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