Clinicobiochemical Analysis of Four Cases of Xanthine Oxidase Deficiency
Xanthinuria is a rare hereditary disease characterized by a deficiency of xanthine oxidase (E C 1,2,3,2), which metabolized hypoxanthine and xanthine to uric acid. In Japan, two cases of xanthinuria have been reported. However, during the past two years, we have investigated four patients with hypouricemia, hypouricosuria and xanthinuria. In almost all of these patients, hypouricemia (less than 1.0 mg/dl) was the most important index information to make a definite diagnosis of this disorder. After clinical profiles of these four patients were described, an easy method of detection of xanthine oxidase activity from the duodenal mucosa was developed by the authors. Urinary oxypurine was also analyzed by high-pressure liquid chromatography, and the results are reported here.
KeywordsUric Acid Xanthine Oxidase Renal Tumor Uric Acid Level Renal Stone
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