Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper. (1st July 2015)

• Record Type: Journal Article
• Authors: Auler, Kasie; Broock, Robyn; Nyhan, William L.
• Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
• Is Part Of: Current protocols in human genetics. Volume 86(2015)
• Page Start: 17.19.1
• Page End: 17.19.10
• Publication Date: 2015-07-01
• Subjects: Lesch‐Nyhan syndrome -- HPRT -- APRT -- radiolabeled enzyme assay; Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/0471142905.hg1719s86
• Languages: English
• ISSNs: 1934-8258

Abstract

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. © 2015 by John Wiley & Sons, Inc.