Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.

@article{Sauer2011TherapeuticMO,
  title={Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.},
  author={S. Sauer and S. Opp and G. Hoffmann and D. Koeller and J. Okun and S. K{\"o}lker},
  journal={Brain : a journal of neurology},
  year={2011},
  volume={134 Pt 1},
  pages={
          157-70
        }
}
Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized in the final common catabolic pathway of L-lysine, L-hydroxylysine and L-tryptophan, leads to accumulation of neurotoxic glutaric and 3-hydroxyglutaric acid, as well as non-toxic glutarylcarnitine. Most untreated patients develop irreversible brain damage during infancy that can be prevented in the majority of cases if metabolic treatment with a low L-lysine diet and L-carnitine supplementation is… Expand
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