3A03.0 Hereditary orotic aciduria

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Hereditary orotic aciduria
• orotic aciduria NOS
• Orotaciduric anaemia
• orotic aciduria anaemia
• orotic aciduria megaloblastic anaemia
• Hereditary orotic aciduria type 1
• Combined orotate phosphoribosyltransferase and orotate-5-phosphate decarboxylase deficiency
• Uridine monophosphate synthase deficiency
• deficiency of orotate phosphoribosyltransferase
• deficiency of orotidylic acid phosphorylase
• Hereditary orotic aciduria type 2
• Orotidine-5-phosphate decarboxylase deficiency
• Orotidylic decarboxylase deficiency

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