Abstract
We report the results of new biochemical studies in D.G., the longest surviving patient with hereditary orotic aciduria.He is now 23 years old and in good health and regular employment. In 1984 on a normal diet he excreted 0.72mmol orotic acid/mmol creatinine. His plasma orotic acid was 20μmol/l and his renal clearance of orotic acid 295ml/min (creatinine clearance 93ml/min), confirming net renal secretion of orotic acid. His plasma uridine was 50μmol/l. His erythrocyte nucleotides are within the normal range except for raised levels of UDPG eg 84 and 113 μmol/1 (normal 36±8SD). Incorporation of lmmol/l adenine into nucleotides by intact erythrocytes is normal, indicating PP-ribose-P levels are not increased. Studies of immune function have been normal and include normal intracytoplasmic Ig levels in resting and PWM-stimulated lymphocytes. Several times in recent years he has stopped taking his normal dose of 3g uridine/day, which has resulted in large increases in urine orotic acid levels and in megaloblastic anaemia. These results indicate the continued requirement for de novo pyrimidine synthesis in adulthood.
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Becroft, D., Webster, D., Simmonds, H. et al. HEREDITARY OROTIC ACIDURIA : FURTHER BIOCHEMISTRY: 13. Pediatr Res 19, 746 (1985). https://doi.org/10.1203/00006450-198507000-00033
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DOI: https://doi.org/10.1203/00006450-198507000-00033