Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

@article{Koelker2013CurrentCI,
  title={Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation},
  author={Stefan Koelker and Peter Burgard and Sven Wolfgang Sauer and Juergen Guenther Okun},
  journal={Journal of Inherited Metabolic Disease},
  year={2013},
  volume={36},
  pages={635-644}
}
This review focuses on the pathophysiology of organic acidurias (OADs), in particular, OADs caused by deficient amino acid metabolism. OADs are termed classical if patients present with acute metabolic decompensation and multiorgan dysfunction or cerebral if patients predominantly present with neurological symptoms but without metabolic crises. In both groups, however, the brain is the major target. The high energy demand of the brain, the gate-keeping function of the blood–brain barrier, a… CONTINUE READING
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