Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.

@article{Johnson1980InbornEO,
  title={Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.},
  author={Jean Luc Johnson and William R. Waud and Krishnakumar Rajagopalan and M. X. Pe{\~n}a Dur{\'a}n and Frits A. Beemer and Sybe K. Wadman},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1980},
  volume={77 6},
  pages={
          3715-9
        }
}
A patient suffering from a combined deficiency of sulfite oxidase (sulfite dehydrogenase; sulfite:ferricytochrome c oxidoreductase, EC 1.8.2.1) and xanthine dehydrogenase (xanthine:NAD+ oxidoreductase, EC 1.2.1.37) is described. The patient displays severe neurological abnormalities, dislocated ocular lenses, and mental retardation. Urinary excretion of sulfite, thiosulfate, S-sulfocysteine, taurine, hypoxanthine, and xanthine is increased in this individual, while sulfate and urate levels are… CONTINUE READING
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