title: 1-Methyladenine in urine of an adenosine deaminase-deficient adult without immunodeficiency.
abstract: Procedures are described for the isolation and identification of 1-methyladenine from the urine of an adult female with adenosine deaminase deficiency but no immunodeficiency. Evidence is provided indicating that much of the usual urinary excretion product, 1-methyladenosine, is converted to 1-methyladenine in this subject prior to excretion. Since the nucleoside phosphorylases present in normal individuals do not act on 1-methyladenosine, this suggests that a phosphorylase with unusual properties is present in this adenosine deaminase-deficient subject. A possible role for this phosphorylase in removal of deoxyadenosine in this subject is discussed.
authors.affiliation: Department of Human Biological Chemistry and Genetics, University of Texas Medical Branch, Galveston 77550.
authors.forename: G C
authors.initials: GC
authors.lastname: Mills
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism / Q000652:urine; D000243:Adenosine Deaminase / Q000172:deficiency*; D000328:Adult; D002852:Chromatography, Ion Exchange; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000652:urine*; D009700:Nucleoside Deaminases / Q000172:deficiency*; D013056:Spectrophotometry, Ultraviolet
chemical_list: C008407:1-methyladenine; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase; D000225:Adenine