title: Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency.
abstract: We have identified seven adenine nucleosides in urines of untreated adenosine deaminase (ADA) deficient patients, four of which (adenosine, 2'-deoxyadenosine, 1-methyladenosine and N6-methyladenosine) have been previously identified in urines of normals and/or ADA deficient patients. We confirm that ADA deficient patients excrete markedly increased amounts of 2'-deoxyadenosine (582 +/- 363 versus normal of less than 0.1 nmoles/mg creatinine) and increased amounts of adenosine (29.4 +/- 5.7 versus normal of 4.12 +/- 1.0 nmoles/mg creatinine). We have found three modified adenine nucleosides previously undetected in human urine. These three compounds are 2'-O-methyladenosine, N6, 2'-O-dimethyladenosine and an as yet incompletely characterized modified adenine nucleoside, R-adenosine. Only ADA deficient patients excrete detectable amounts of 2'-O-methyladenosine (2.1 +/- 1.1 versus normal of less than 0.1 nmoles/ mg creatinine), whereas both normals and ADA deficient children excrete N6, 2'-O-dimethyladenosine and R-adenosine. However, ADA deficient patients do excrete increased amounts of R-adenosine (5.5 +/- 1.0 versus normal of 1.4 +/- 0.4 nmoles/mg creatinine).
mesh_terms: D000227:Adenine Nucleotides / Q000652:urine*; D000241:Adenosine / Q000031:analogs & derivatives / Q000652:urine; D000243:Adenosine Deaminase / Q000172:deficiency*; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003839:Deoxyadenosines / Q000652:urine; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009700:Nucleoside Deaminases / Q000172:deficiency*; D012315:RNA Caps / Q000652:urine
chemical_list: D000227:Adenine Nucleotides; D003839:Deoxyadenosines; D012315:RNA Caps; C024341:2'-O-methyladenosine; C002230:1-methyladenosine; C010223:N-methyladenosine; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase; D000241:Adenosine