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Inosine triphosphatase deficiency

MONDO:0013461

An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.

Also known as: inosine triphosphatase deficiency, inosine triphosphate pyrophosphohydrolase deficiency

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)

Trials to join now! 1 Completed 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 Jun 26, 2026 13:34 UTC