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Pyrimidine Metabolism Disorders

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
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Pyrimidines may be synthesized de novo or recycled by a salvage pathway from normal catabolism. The catabolism of pyrimidines produces citric acid cycle intermediates. There are several disorders of pyrimidine metabolism (see the table Pyrimidine Metabolism Disorders Pyrimidines may be synthesized de novo or recycled by a salvage pathway from normal catabolism. The catabolism of pyrimidines produces citric acid cycle intermediates. There are several disorders... read more ).

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Uridine monophosphate synthase deficiency (hereditary orotic aciduria)

Uridine monophosphate is the enzyme that catalyzes orotate phosphoribosyltransferase and orotidine-5-monophosphate decarboxylase reactions. With deficiency, orotic acid accumulates, causing clinical manifestations of megaloblastic anemia, orotic crystalluria and nephropathy, cardiac malformations, strabismus, and recurrent infections.

Treatment of uridine monophosphate synthase deficiency is with oral uridine supplementation.

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