Abstract
Combined deficiency of xanthine oxidase (XO, EC 1.2.3.2) and sulphite oxidase (SO, EC 1.8.21.), (“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 al., 1983). In these patients, a metabolic defect at the level of the “molybdenum coafctor” common to the two enzymes (Johnson et al., 1980) appeared to be responsible for the loss of both enzyme activities. The clinical symptoms include axial hypotonia with peripheral hypertonicity, tonic-clonic seizures refractory to all therapy, feeding difficulties, eye lens dislocation and deep mental retardation. Most of the clinical abnormalities are already present in the neonatal period. The prognosis is very poor and the patients who survived the neonatal period present very severe neurological disturbances. So far, all therapeutic attempts have been unsuccessful. We report here biochemical and enzymatic study of a new case, which led to an antenatal diagnosis.
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Desjacques, P. et al. (1985). Combined Deficiency of Xanthine Oxidase and Sulphite Oxidase: Diagnosis of a New Case Followed by an Antenatal Diagnosis. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_30
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DOI: https://doi.org/10.1007/978-94-011-8019-1_30
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