title: Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
abstract: Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of two LNS affected members of a family with deficiency of activity of HPRT in intact cultured fibroblasts in whom mutation could not be found in the HPRT coding sequence but there was markedly decreased HPRT expression of mRNA.
authors: Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, San Diego, CA 92103-8467, USA. kvn006@ucsd.edu
authors: Khue Vu
authors: KV
authors: Nguyen
authors: Robert K
authors: RK
authors: Naviaux
authors: Kacie K
authors: KK
authors: Paik
authors: William L
authors: WL
authors: Nyhan
mesh_terms: D000293:Adolescent; D004247:DNA / Q000235:genetics*; D057075:Enzyme Assays; D015971:Gene Expression Regulation, Enzymologic; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016366:Open Reading Frames / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012015:Reference Standards; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase