Orotic aciduria

From Health Encyclopedia

Used for

orotate phosphoribosyltransferase deficiency

Broader Terms

enzyme deficiency, megaloblastic anemia, mental retardation, purine /pyrimidine metabolism disorder

Facts (generated by robot; please edit if you find it inaccurate)

• The orotic aciduria is considered secondary to PP-ribose-P depletion in consequence of the greatly increased flux through the de novo pathway.
• Kelley Orotic aciduria is a rare autosomal recessive disease in man due to a deficiency of orotate phosphoribosyltransferase (EC 2.
• A rapid and selective capillary zone electrophoretic method for screening of patients with orotic aciduria is described.
• Hereditary orotic aciduria is an autosomal recessive disease in which there is a severe deficiency in the activity of the de novo pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase.
• A urinary screening test for hereditary orotic aciduria is described.

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