[Double deficiency of sulfite and xanthine oxidase causing encephalopathy and due to a hereditary anomaly in the metabolism of molybdenum].
The clinical features and biological results in a second patient with a metabolic defect of the molybdenum cofactor are described. The first case was reported in 1978 by Duran et al. Their clinical description was similar with early encephalopathy and myoclonial and dislocation of the lens. Biologically, this condition is characterised by secondary hypo-uricemia and hypo-uricuria due to xanthine oxidase deficiency and by sulphituria, resulting from sulphite oxidase deficiency. These two enzymes have a common hepatic molybdenum cofactor, the structure and metabolism of which are only partially known.
D001928:Brain Diseases, Metabolic / Q000235:genetics*; D003067:Coenzymes; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D008667:Metalloproteins; D008982:Molybdenum / Q000172:deficiency / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D010088:Oxidoreductases / Q000172:deficiency*; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D011621:Pteridines / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics; D014969:Xanthine Oxidase / Q000172:deficiency*
D003067:Coenzymes; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D010088:Oxidoreductases; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D014969:Xanthine Oxidase; C022261:molybdopterin
Double déficit en sulfite et xanthine oxydase, cause d'encéphalopathie due à une anomalie héréditaire du métabolisme du molybdène.