Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I

  title={Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I},
  author={Roland Posset and S. Opp and E. Struys and A. V{\"o}lkl and H. Mohr and G. Hoffmann and S. K{\"o}lker and S. Sauer and J. Okun},
  journal={Journal of Inherited Metabolic Disease},
Inherited deficiencies of the L-lysine catabolic pathway cause glutaric aciduria type I and pyridoxine-dependent epilepsy. Dietary modulation of cerebral L-lysine metabolism is thought to be an important therapeutic intervention for these diseases. To better understand cerebral L-lysine degradation, we studied in mice the two known catabolic routes — pipecolate and saccharopine pathways — using labeled stable L-lysine and brain peroxisomes purified according to a newly established protocol… Expand
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Deletion of 2‐aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
Flux analysis of inborn errors of metabolism
  • D. Reijngoud
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 2017
A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.
The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies.
DHTKD1 and OGDH display in vivo substrate overlap and form a hybrid ketoacid dehydrogenase complex


Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Identification of L-amino acid/L-lysine α-amino oxidase in mouse brain
Molecular cloning and expression of human L-pipecolate oxidase.
Identification of L-amino acid/L-lysine alpha-amino oxidase in mouse brain.
Pipecolic acid pathway: the major lysine metabolic route in the rat brain.
  • Y. Chang
  • Biology, Medicine
  • Biochemical and biophysical research communications
  • 1976
Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ1-piperideine-6-carboxylate generating L-pipecolic acid
L-pipecolic acid oxidation in the rabbit and cynomolgus monkey. Evidence for differing organellar locations and cofactor requirements in each species.