Blood, 1959, Vol. 14, No. 6, pp. 615-634.
© 1959 American Society of Hematology, Inc.
Refractory Megaloblastic Anemia Associated
with Excretion of Orotic Acid
CHARLES M. HUGULEY JR. 1,
JAMES A. BAIN 1,
SHIRLEY L. RIVERS 1, and
ROBERT B. SCOGGINS 1
1 Departments of Medicine and Pharmacology, Emory University School of
Medicine, and Emory University Hospital, Atlanta, Ga.
A case is presented of a child who had a megaloblastic anemia which was
not responsive to vitamin B12 nor to folic acid. The erythrocytes were hypochromic and microcytic, but there was no response to iron or to pyridoxine.
Neither parent and no siblings had evidence of thallassemia. The autopsy did
not reveal evidence of Di Guglielmo’s disease.
A striking feature was the excretion of large amounts of orotic acid in the
urine.
Improvement followed administration of adrenal steroid hormones without
reversal of the megaloblastic marrow nor striking reduction in orotic acid
excretion.
A seemingly complete hematologic remission and a remarkable reduction
in orotic acid excretion followed the administration of a crude mixture containing uridylic acid and cytidylic acid while steroid hormones were continued. Before further studies could be made the child died of severe
varicella.
Submitted on June 27, 1958
Accepted on October 12, 1958
