title: Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.
abstract: A method is presented for the two-dimensional thin-layer chromatographic screening of purines, pyrimidines and their nucleosides in the urine. Prior to chromatography, isolation of these substances from the urine is performed by anion-exchange column chromatography. Purines and pyramidines are quantitatively eluted with formic acid 0.01 M and 4 M respectively. The results of recovery and stability experiments are given. Normal excretory patterns are presented. Also results in patients with various diseases are shown: ornithine transcarbamylase deficiency, adenosine deaminase deficiency, purine nucleoside phosphorylase deficiency, adenine phosphoribosyltransferase deficiency, xanthine oxidase deficiency and hypoxanthine-guanine phosphoribosyltransferase deficiency. Finally the pattern of a patient on treatment with allopurinol is given.
mesh_terms: D001276:ATP Phosphoribosyltransferase / Q000172:deficiency; D000243:Adenosine Deaminase / Q000172:deficiency; D000493:Allopurinol / Q000652:urine; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D002855:Chromatography, Thin Layer / Q000379:methods; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D011687:Purines / Q000652:urine; D011743:Pyrimidines / Q000652:urine; D014969:Xanthine Oxidase / Q000172:deficiency
chemical_list: D011687:Purines; D011743:Pyrimidines; D000493:Allopurinol; D014969:Xanthine Oxidase; D011683:Purine-Nucleoside Phosphorylase; D001276:ATP Phosphoribosyltransferase; D000243:Adenosine Deaminase