Clinical Chemistry, Vol 17, 795-801, Copyright © 1971 by the American Association for Clinical Chemistry

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

¹ Departments of Medicine and Biochemistry, Duke University Medical Center, Durham, N. C. 27706. Address corresponce to W. N. K.

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.