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Phosphoribosylpyrophosphate synthetase deficiency

MONDO:0043176

Also known as: deafness hyperuricemia neurologic ataxia, PRPP synthetase deficiency

1 clinical trial for this condition and its sub-types, 0 tagged with Phosphoribosylpyrophosphate synthetase deficiency itself.

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Part of

↑ Syndromic disease (7158) ↑ Inborn disorder of purine or pyrimidine metabolism (50)

Including sub-types (1) Tagged with Phosphoribosylpyrophosphate synthetase deficiency (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