Uridine monophosphate synthase deficiency

external

• Synonyms

  • Hereditary orotic aciduria

• Causes

  • UMPS gene mutation

• Effects

  • Raised plasma orotic acid
  • Orotic acid stone
  • Megaloblastic anaemia
  • Congenital strabismus
  • Congenital heart disease due to genetic syndromes

• Parents

  • Congenital immunodeficiency
  • Autosomal recessive congenital metabolic disease

• Description

  • "Codes enzyme that catalyzes pyrimidine pathway. OMP decarboxylase converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene cause orotic aciduria. Megaloblastic anemia which cannot be cured by administration of vitamin B12 or folic acid."