Rare Diseases Symptoms Automatic Extraction

Simultaneous occurrence of xanthine oxidase and sulfite oxidase deficiency. A molybdenum dependent inborn error of metabolism?

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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.