orotic aciduria

Genetics

• recessive
• associated with defects in UMPS (type 1)

Clinical manifestations

• retarded growth
• anemia

Laboratory

• orotate in urine
  • excessive urinary excretion of orotic acid
• uridine monophosphate synthetase in erythrocytes

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/258900