Propionic acidemia (PA) is an intoxication-type inborn error of metabolism caused by decreased ability of propionyl-CoA carboxylase to convert propionyl-CoA to methylmalonyl-CoA. Affected children typically present with metabolic acido-sis, which can evolve to lethargy and eventual coma and death during episodes of catabolism if not adequately treated (1,2). Recent reports have highlighted the potential for cardiac involvement in PA, especially the development of life-threatening cardiomyopathy, which might be related to abnormalities of mitochondrial function (3). Although propionyl-CoA carboxylase activity is present throughout the body, i.e., not restricted to the liver, success in treating other inborn errors of metabolism such as urea cycle defects, methylmalonic acidemia, and maple syrup urine disease with liver transplantation has made this procedure an attractive therapeutic option (4, 5).
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