TY  - JOUR
T1  - HEreditary orotic aciduria with normal growth and development
AU  - Tubergen DG, Krooth RS, Heyn RM
Y1  - 1969/12/01
N1  - 10.1001/archpedi.1969.02100040866009
JO  - American Journal of Diseases of Children
SP  - 864
EP  - 870
VL  - 118
IS  - 6
N2  - 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.
SN  - 0002-922X
M3  - doi: 10.1001/archpedi.1969.02100040866009
UR  - http://dx.doi.org/10.1001/archpedi.1969.02100040866009
ER  -