3A03.0
Hereditary orotic aciduria
Acidúria orótica hereditária
CategoryDefinition
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.
Index Terms
Hereditary orotic aciduriaorotic aciduria NOSOrotaciduric anaemiaorotic aciduria anaemiaorotic aciduria megaloblastic anaemiaHereditary orotic aciduria type 1Combined orotate phosphoribosyltransferase and orotate-5-phosphate decarboxylase deficiencyUridine monophosphate synthase deficiencydeficiency of orotate phosphoribosyltransferasedeficiency of orotidylic acid phosphorylaseHereditary orotic aciduria type 2Orotidine-5-phosphate decarboxylase deficiencyOrotidylic decarboxylase deficiency