Biochemical Studies of Four Cases with Xanthinuria

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Hereditary xanthinuria is a rare disorder of purine metabolism that results from a marked decreased of xanthine oxidase (EC 1. 2. 3. 2) activity. In Japan, only 2 cases with xanthinuria have been reported. For last tow years (1980-1981) we experienced four Japanese patients with hypouricemia, hypouricosuria and xanthinuria. We report here the biochemical features of four cases with hereditary xanthinuria.<BR>Case 1 was a 50-year-old woman who was initially diagnosed Graves's diseas in 1968, but otherwise well. Case 2 was a 67-year-old man who had a renal stone and died of renal tumor in the middle of this study. Case 3 was a 39-year-old man who was combined chronic renal failure. And his younger brother was case 4 who has been healthy.<BR>A revers phase high-performance liquid chromatography (HPLC) was used to the determination of hypoxanthine, xanthine, uric acid and allopurinol (4-hydroxypyrazolo-(3, 4-d) pyrimidine) in human urine Urinary hypoxanthine concentration was 1.3-5.4 mg/100ml, urinary xanthine concentration was 11.3-26.1 mg/100ml and the ratio (by moler) of xanthine to oxypurine (hypoxanthine+xanthine) was 77-89% in four cases with xanthinuria.<BR>In three cases (1, 3, 4) xanthine oxidase activity in extracts from jejunal mucosa was assayed by a ultraviolet spectrophotometric method, which depends on the enzymatic conversion of hypoxanthine to uric acid. The enzyme activity was marked decreased in all cases.<BR>The findings of these biochemical features on four cases were suggested the presence of hereditary xanthinuria.
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Biochemical Studies of Four Cases with Xanthinuria

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