Orotic aciduria
MONDO:0009797An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
Also known as: Hereditary Orotic Aciduria, orotic aciduria, oroticaciduria, orotidylic decarboxylase deficiency, uridine monophosphate synthetase deficiency, OPRT and ODC deficiency, UMP synthtase deficiency, UMPS
10 clinical trials for this condition and its sub-types, 1 tagged with Orotic aciduria itself.
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Sub-types of Orotic aciduria
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Smartwatch signals may flag anemia, no needle needed
Diagnosis Not yet recruitingAnemia often goes unnoticed because diagnosis requires a blood draw. This study tests whether a wrist-worn smartwatch can identify people likely to have anemia by tracking blood flow, heart rate, oxygen, and movement. About 400 adults, with and without anemia, will wear the watch…
Sponsor: Peking Union Medical College Hospital • Aim: Diagnosis
Last updated Sep 03, 2026 00:00 UTC
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Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC