title: Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
abstract: Hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is the cause of Lesch-Nyhan disease. Adenine phosphoribosyl-transferase (APRT) deficiency causes renal calculi. The activity of each enzyme is readily determined on spots of whole blood on filter paper. This unit describes a method for detecting deficiencies of HPRT and APRT.
authors.affiliation: Biochemical Genetics Laboratory, University of California San Diego, San Diego, California.
authors.forename: Kasie
authors.initials: K
authors.lastname: Auler
authors.affiliation: Biochemical Genetics Laboratory, University of California San Diego, San Diego, California.
authors.forename: Robyn
authors.initials: R
authors.lastname: Broock
authors.affiliation: Biochemical Genetics Laboratory, University of California San Diego, San Diego, California.
authors.forename: William L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000097:blood*; D057075:Enzyme Assays / Q000379:methods* / Q000592:standards; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood*; D007926:Lesch-Nyhan Syndrome / Q000097:blood* / Q000175:diagnosis*; D011786:Quality Control
chemical_list: D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase
keywords: APRT; HPRT; Lesch-Nyhan syndrome; radiolabeled enzyme assay