Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosis

@article{Desjacques1985CombinedDO,
  title={Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosis},
  author={P. Desjacques and B{\'e}n{\'e}dicte Mousson and Christine Vianey-Liaud and R. Boulieu and C M Bory and P. Baltassat and Priscille Divry and Marie-Th{\'e}r{\`e}se Zabot and J L Cotte and Pierre Lagier and Nicole Philip},
  journal={Journal of Inherited Metabolic Disease},
  year={1985},
  volume={8},
  pages={117-118}
}
Combined deficiency of xanthine oxidase (XO, EC 1.2.3.2) and sulphite oxidase (SO, EC 1.8.2.1), ("molybdenum cofactor" deficiency) is a very rare disorder. Up to now, only seven cases have been published (Duran et al., 1978; Munnich et al., 1983; Wadman et aI., 1983). In these patients, a metabolic defect at the level of the "molybdenum cofactor" common to the two enzymes (Johnson et at., 1980) appeared to be responsible for the loss of both enzyme activities. The clinical symptoms include… CONTINUE READING
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