orotic aciduria without megaloblastic anemia

An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.

Therapeutic area

Hematology

Rarity

Unknown

Prevalence

—

MONDO

MONDO:0800308