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 
).
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .
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.
Diagnosis of uridine monophosphate synthase deficiency is by DNA analysis and/or enzyme assay in a variety of tissues. (See also testing for suspected inherited disorders of metabolism Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .)
Treatment of uridine monophosphate synthase deficiency is with oral uridine supplementation.
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Online Mendelian Inheritance in Man® (OMIM®) database: Complete gene, molecular, and chromosomal location information
