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xanthinuria

n. 1 An abnormally high level of xanthine in one's urine. 2 The genetic disorder that causes this.

Wikipedia
Xanthinuria

Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.

It was first formally characterized in 1954.