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Xanthinuria

MONDO:0000721

A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.

1 clinical trial for this condition and its sub-types.

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Sub-types

Xanthinuria type I (1) Acquired xanthinuria (0) Hereditary xanthinuria (0) Xanthinuria type II (0)

Broader categories

Disease (680) Metabolic disease (233) Human disease (14) Disease by developmental or physiological process (0)

Trials to join now! 1

Scientists launch major study to unravel mysterious metabolism disorders

Knowledge-focused Recruiting now

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Aug 12, 2026 00:00 UTC