RT Journal
A1 Tubergen DG, Krooth RS, Heyn RM
T1 HEreditary orotic aciduria with normal growth and development
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1969
FD December 1
VO 118
IS 6
SP 864
OP 870
DO 10.1001/archpedi.1969.02100040866009
UL http://dx.doi.org/10.1001/archpedi.1969.02100040866009
AB Hereditary orotic aciduria was found in a 7-year-old girl who had anemia, leukopenia, a megaloblastic bone marrow, crystalluria, and normal growth and intelligence. Uridine produced a rapid hematologic improvement, similar to that seen in the previously reported cases. The 24-hour excretion of urinary orotic acid ranged from 290 mg while the patient was on a dosage of 150 mg/kg/day of uridine, to 650 mg while she was on a dosage of 20 mg/ kg/day. The urinary orotic acid/creatinine ratio varied inversely with the uridine dose. Enzyme studies on hemolysates and cultured fibroblasts from the patient revealed grossly reduced levels of orotidine-5′-monophosphate pyrophosphorylase and decarboxylase. The red blood cell levels of both of these enzymes in the one parent studied were compatible with heterozygosity.