Simultaneous occurrence of xanthine oxidase and sulfite oxidase deficiency. A molybdenum dependent inborn error of metabolism?
In a 3-week old female child with clinical features including neurologic abnormalities and lens dislocation, xanthinuria co-existed with increased excretion of sulfur compounds (sulfite, S-sulfocysteine, taurine and thio-sulfate). Low xanthine oxidase and absent sulfite oxidase activities were found on liver biopsy. No abnormality was detected in either parent. Both the above enzymes are molybdenum-flavoproteins. Normal serum molybdenum concentration seemed to rule out dietary deficiency or impaired absorption. A defect in the incorporation of the metal into flavoproteins is postulated in this case.
D000818:Animals; D002417:Cattle; D006801:Humans; D007422:Intestines / Q000201:enzymology; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008664:Metal Metabolism, Inborn Errors / Q000201:enzymology*; D008982:Molybdenum / Q000378:metabolism*; D010088:Oxidoreductases / Q000172:deficiency*; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D051381:Rats; D014969:Xanthine Oxidase / Q000172:deficiency*
D008982:Molybdenum; D010088:Oxidoreductases; D014969:Xanthine Oxidase; D050862:Oxidoreductases Acting on Sulfur Group Donors