Propionic acidemia

Definition:

Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism.

References:

[1]. Federica Deodato, et al. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. [Content Brief]

[2]. H Ogier de Baulny, et al. Branched-chain organic acidurias. Semin Neonatol. 2002 Feb;7(1):65-74. [Content Brief]

[3]. William R Wikoff, et al. Metabolomics identifies perturbations in human disorders of propionate metabolism. Clin Chem. 2007 Dec;53(12):2169-76. [Content Brief]

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