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).
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism.
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.)
Treatment of uridine monophosphate synthase deficiency is with oral uridine supplementation.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information
