A Genetic Study of Hereditary Orotic Aciduria

Abstract

HEREDITARY orotic aciduria is a disorder of pyrimidine metabolism manifested by megaloblastic anemia, leukopenia, retarded growth and the urinary excretion of large quantities of orotic acid.^{1 , 2} The disease was first described in a nine-month-old male infant with severe megaloblastic anemia that was refractory to vitamin B₁₂ and folic acid therapy but responsive to the oral administration of prednisone and a yeast extract containing uridylic and cytidylic acids. With this improvement in the clinical manifestations of the disease the quantity of urinary orotic acid was reduced. The child died of an overwhelming varicella infection at two and a half years . . .