Pena, L., Franks, J., Chapman, K.A., Gropman, A., Mew, N.A., Chakrapani, A., Island, E., Matern, D., Smith, B., Stagni, K., Sutton, V.R., Ueda, K., Venditti, C., Enns, G.M. and Summar, M.L. (2012) Natural History of Propionic Acidemia. Molecular Genetics and Metabolism, 105, 5-9.
http://dx.doi.org/10.1016/j.ymgme.2011.09.022

has been cited by the following article:

• TITLE: Successful Treatment of Cardiac Failure Due to Cardiomyopathy in Propionic Acidemia by Cardiac Resynchronization Therapy and Hemodialysis in a Young Adult

  AUTHORS: Masato Kimura, Yuji Wakayama, Osamu Sakamoto, Kengo Kawano, Toshihiro Ohura, Shigeo Kure

  KEYWORDS: Propionic Acidemia; Cardiomyopathy; Cardiac Resynchronization Therapy; Hemodialysis

  JOURNAL NAME: Open Journal of Pediatrics, Vol.4 No.1, March 14, 2014

  ABSTRACT: Propionic acidemia is an autosomal recessive disorder that is due to deficiency in the enzyme propionyl-CoA carboxylase. Cardiomyopathy is a well-known phenomenon in propionic acidemia that it may rapidly progress to death. Here we describe a case of propionic acidemia in a 27-year-old man who developed adult-onset secondary dilated cardiomyopathy. In early infancy he was diagnosed with propionic acidemia and was later noted to have mild mental retardation, mild renal failure, and optic nerve atrophy. Although he was in good energy status with a low-protein diet and carnitine supplementation, he was admitted to our university hospital with decompensate heart failure, which resulted in low-output cardiac syndrome with massive mitral regurgitation and left ventricular dyssynchrony. Cardiac resynchronization therapy (CRT) and continuous hemodiafiltration followed by hemodialysis (HD) dramatically improved his clinical status.