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  • Title: [Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].
    Author: Sumi S, Wada Y.
    Journal: Nihon Rinsho; 1996 Dec; 54(12):3333-6. PubMed ID: 8976115.
    Abstract:
    Hereditary xanthinuria is a rare autosomal recessive disorder, with xanthine oxidase deficiency. Patients often display renal symptoms because they excrete a large amounts of xanthine in urine. An high-fluid-intake, alow-purine-food, and alkalinization of urine are effective in the patients. Molybdenum cofactor is essential for xanthine oxidase, sulfite oxidase and aldehyde oxidase. Patients with molybdenum cofactor deficiency display severe neurological symptoms, such as severe convulsions. The patients increase urinary excretions of xanthine and sulfite. Treatments are ineffective for neurological symptoms.
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