ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C55 — Inborn errors of purine, pyrimidine or nucleotide metabolism
5C55.1 — Disorders of pyrimidine metabolism
3A03.0 — Hereditary orotic aciduria
ICD-11 3A03.0 — Hereditary orotic aciduria
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.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: