Ultraviolet-Absorbing Compounds in Urine from Patients with Hereditary Disorders of Purine and Pyrimidine Metabolism

Abstract

Abstract A Mark II prototype uv analyzer was used to study urinary uv-absorbing compounds in eight patients with gout, one patient with partial deficiency of adenine phosphoribosyltransferase, three patients with the Lesch— Nyhan syndrome, two patients with hereditary orotic aciduria, and two obligate heterozygotes for orotic aciduria. All eight gouty subjects excreted abnormal amounts of one or more uv-absorbing compounds while on a strictly defined dietary and drug program. These included increased excretion of xanthine, pseudouridine, uracil, or orotidine. The excretion of uv-absorbing compounds in patients with well-defined inborn errors of purine and pyrimidine metabolism was consistent with the findings previously reported. The significance of these abnormalities is discussed and the importance of strictly controlled conditions is emphasized.