Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor.
A case of combined deficiency of sulphite-oxidase and xanthine-oxidase with a defect of the molybdenum cofactor, which is vital to the activity of sulphite-, xanthine- and aldehyde-oxidase, is reported here. Seven cases of combined deficiencies have been described with regard to both clinical and laboratory findings. The clinical, laboratory and anatomo-pathological features and, in particular, the central nervous system lesions of the present case correspond exactly to those in the case described Rosenblum in which an isolated deficiency in sulphite-oxidase was present. As the cerebral alterations in the present case are comparable to those described in Rosenblum's case, they probably result from the defect in sulphite-oxidase activity.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology; D000603:Amino Acids, Sulfur / Q000378:metabolism; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003067:Coenzymes; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D008667:Metalloproteins; D008831:Microcephaly / Q000473:pathology*; D008982:Molybdenum / Q000172:deficiency*; 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 / Q000150:complications / Q000473:pathology; D013431:Sulfates / Q000652:urine; D013577:Syndrome; D014969:Xanthine Oxidase / Q000172:deficiency*; D014970:Xanthines / Q000652:urine
D000603:Amino Acids, Sulfur; D003067:Coenzymes; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D010088:Oxidoreductases; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D013431:Sulfates; D014969:Xanthine Oxidase; D014970:Xanthines; C022261:molybdopterin