Sumi S, Wada Y
Department of Pediatrics, Nagoya City University Medical School.
Nihon Rinsho. 1996 Dec;54(12):3333-6.
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.
遗传性黄嘌呤尿症是一种罕见的常染色体隐性疾病,伴有黄嘌呤氧化酶缺乏。患者常出现肾脏症状,因为他们在尿液中排泄大量黄嘌呤。高液体摄入量、低嘌呤食物和尿液碱化对这些患者有效。钼辅因子对黄嘌呤氧化酶、亚硫酸盐氧化酶和醛氧化酶至关重要。钼辅因子缺乏的患者表现出严重的神经症状,如严重惊厥。这些患者的黄嘌呤和亚硫酸盐尿排泄增加。治疗对神经症状无效。