[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].
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.
Sumi
S
S
Department of Pediatrics, Nagoya City University Medical School.
Wada
Y
Y
D002493:Central Nervous System Diseases / Q000209:etiology; D003067:Coenzymes; D003937:Diagnosis, Differential; D004035:Diet Therapy; D006801:Humans; D007231:Infant, Newborn; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D012640:Seizures / Q000209:etiology; D014527:Uric Acid / Q000097:blood / Q000652:urine; D019820:Xanthine; D014969:Xanthine Oxidase / Q000172:deficiency*; D014970:Xanthines / Q000652:urine*
D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; D014527:Uric Acid; D019820:Xanthine; D014969:Xanthine Oxidase; D014970:Xanthines; C022261:molybdopterin