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

J Inherit Metab Dis. 2015 Mar;38(2):265-72. doi: 10.1007/s10545-014-9762-z. Epub 2014 Sep 12.

Abstract

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. Experiments with labeled stable L-lysine show that cerebral L-pipecolate is generated along two pathways: i) a minor proportion retrograde after ε-deamination of L-lysine along the saccharopine pathway, and ii) a major proportion anterograde after α-deamination of L-lysine along the pipecolate pathway. In line with these findings, we observed only little production of saccharopine in the murine brain. L-pipecolate oxidation was only detectable in brain peroxisomes, but L-pipecolate oxidase activity was low (7 ± 2μU/mg protein). In conclusion, L-pipecolate is a major degradation product from L-lysine in murine brain generated by α-deamination of this amino acid.

Publication types

  • Comparative Study

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Animals
  • Brain / enzymology*
  • Brain Diseases, Metabolic / enzymology*
  • Brain Diseases, Metabolic / genetics*
  • Deamination
  • Disease Models, Animal
  • Genetic Predisposition to Disease
  • Glutaryl-CoA Dehydrogenase / deficiency*
  • Glutaryl-CoA Dehydrogenase / genetics*
  • Liver / enzymology
  • Lysine / analogs & derivatives
  • Lysine / metabolism*
  • Mice, Knockout
  • Oxidation-Reduction
  • Oxidoreductases Acting on CH-NH Group Donors / metabolism
  • Peroxisomes / enzymology
  • Phenotype
  • Pipecolic Acids / metabolism*

Substances

  • Pipecolic Acids
  • Glutaryl-CoA Dehydrogenase
  • Oxidoreductases Acting on CH-NH Group Donors
  • L-pipecolate dehydrogenase
  • pipecolic acid
  • Lysine
  • saccharopine

Supplementary concepts

  • Glutaric Acidemia I