Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test.
A simple method is described for diagnosing adenosine deaminase and purine nucleoside phosphorylase deficiency using urine. Cellulose thin layer chromatography of 1 microliter of urine from affected children was performed and deoxyadenosine and deoxyguanosine were easily detected by phosphorescence at the temperature of liquid nitrogen. This test is not expensive and can be done in any laboratory. It should be suitable for diagnostic screening in patients with immune deficiency.
D000243:Adenosine Deaminase / Q000172:deficiency*; D002855:Chromatography, Thin Layer; D003839:Deoxyadenosines / Q000652:urine; D003849:Deoxyguanosine / Q000652:urine; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000652:urine; D007223:Infant; D008722:Methods; D009700:Nucleoside Deaminases / Q000172:deficiency*; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*
D003839:Deoxyadenosines; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase; D003849:Deoxyguanosine