• Biology, Medicine
  • Published in
    American journal of human…
    2000
  • DOI:10.1086/302919

Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.

@article{Sacksteder2000IdentificationOT,
  title={Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.},
  author={Katherine A. Sacksteder and B J Biery and James C. Morrell and Barbara K. Goodman and Brian V. Geisbrecht and Rody P. Cox and Stephen J. Gould and Michael T. Geraghty},
  journal={American journal of human genetics},
  year={2000},
  volume={66 6},
  pages={
          1736-43
        }
}
The first two steps in the mammalian lysine-degradation pathway are catalyzed by lysine-ketoglutarate reductase and saccharopine dehydrogenase, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Defects in one or both of these activities result in familial hyperlysinemia, an autosomal recessive condition characterized by hyperlysinemia, lysinuria, and variable saccharopinuria. In yeast, lysine-ketoglutarate reductase and saccharopine dehydrogenase are encoded… CONTINUE READING

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