Hereditary xanthinuria

MONDO:0018106

Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.

Also known as: classic xanthinuria, hereditary xanthinuria, xanthic urolithiasis, xanthine stone disease, xanthinuria

1 clinical trial for this condition and its sub-types, 0 tagged with Hereditary xanthinuria itself.

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Where it sits in the disease tree

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↑ Inborn disorder of purine metabolism (14) ↑ Xanthinuria (1)

Sub-types of Hereditary xanthinuria

Xanthinuria type I 1 trial
Xanthinuria type II 0 trials

Including sub-types (1) Tagged with Hereditary xanthinuria (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 21, 2026 00:00 UTC

Hereditary xanthinuria

Where it sits in the disease tree

Scientists launch major study to unravel mysterious metabolism disorders