3A03.0
category
Hereditary orotic aciduria
Definition
Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterised by retarded growth, anaemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localised to chromosome 3q13.
Also indexed as
Combined orotate phosphoribosyltransferase and orotate-5-phosphate decarboxylase deficiencyHereditary orotic aciduriaHereditary orotic aciduria type 1Hereditary orotic aciduria type 2Orotaciduric anaemiaOrotidine-5-phosphate decarboxylase deficiencyOrotidylic decarboxylase deficiencyUridine monophosphate synthase deficiencydeficiency of orotate phosphoribosyltransferasedeficiency of orotidylic acid phosphorylaseorotic aciduria NOSorotic aciduria anaemiaorotic aciduria megaloblastic anaemia