Merck Manual

Please confirm that you are a health care professional

honeypot link

Pyrimidine Metabolism Disorders

By

Matt Demczko

, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia

Last full review/revision Oct 2021| Content last modified Sep 2022
Click here for Patient Education
Topic Resources

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 Pyrimidine Metabolism Disorders ).

Table

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.

More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
quiz link

Test your knowledge

Take a Quiz! 
iOS ANDROID
iOS ANDROID
iOS ANDROID
TOP