HPRT‐Deficiency associated with normal PRPP concentration and APRT activity
Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associate...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1987-03, Vol.10 (1), p.82-88 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Gordon, R. B. Keough, D. T. Emmerson, B. T. |
| description | Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associated with severe hyperuricaemia and gout. Studies of intact erythrocytes showed rates of incorporation of [14C]hypoxanthine and of [14C]adenine into purine nucleotides which were almost indistinguishable from normal. However, HPRT activity in erythrocyte lysates was only 9% of normal. In cell extracts of cultured lymphoblasts, the HPRT activity was 20% of control values and the APRT activity was normal. The PRPP concentration and the rate ofde novo purine synthesis in cultured lymphoblasts were both intermediate between controls and lymphoblasts from patients with the Lesch‐Nyhan syndrome. |
| doi_str_mv | 10.1007/BF01799493 |
| format | Article |
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B. ; Keough, D. T. ; Emmerson, B. T.</creator><creatorcontrib>Gordon, R. B. ; Keough, D. T. ; Emmerson, B. T.</creatorcontrib><description>Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associated with severe hyperuricaemia and gout. Studies of intact erythrocytes showed rates of incorporation of [14C]hypoxanthine and of [14C]adenine into purine nucleotides which were almost indistinguishable from normal. However, HPRT activity in erythrocyte lysates was only 9% of normal. In cell extracts of cultured lymphoblasts, the HPRT activity was 20% of control values and the APRT activity was normal. The PRPP concentration and the rate ofde novo purine synthesis in cultured lymphoblasts were both intermediate between controls and lymphoblasts from patients with the Lesch‐Nyhan syndrome.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/BF01799493</identifier><identifier>PMID: 2437388</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Adenine Phosphoribosyltransferase - blood ; Adult ; Biological and medical sciences ; Erythrocytes - analysis ; Female ; Humans ; Hypoxanthine Phosphoribosyltransferase - deficiency ; Kinetics ; Lymphocytes - analysis ; Male ; Medical sciences ; Metabolic diseases ; Middle Aged ; Other metabolic disorders ; Pentosephosphates - blood ; Pentosyltransferases - blood ; Phosphoribosyl Pyrophosphate - blood ; Purines and pyrimidines (gout, hyperuricemia...)</subject><ispartof>Journal of inherited metabolic disease, 1987-03, Vol.10 (1), p.82-88</ispartof><rights>1987 SSIEM</rights><rights>1988 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3522-5233d4f3da76add33beff2728bf17b30a8b69fe0d676eaca3c15f91bd57499d53</citedby><cites>FETCH-LOGICAL-c3522-5233d4f3da76add33beff2728bf17b30a8b69fe0d676eaca3c15f91bd57499d53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7423865$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2437388$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gordon, R. B.</creatorcontrib><creatorcontrib>Keough, D. T.</creatorcontrib><creatorcontrib>Emmerson, B. T.</creatorcontrib><title>HPRT‐Deficiency associated with normal PRPP concentration and APRT activity</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associated with severe hyperuricaemia and gout. Studies of intact erythrocytes showed rates of incorporation of [14C]hypoxanthine and of [14C]adenine into purine nucleotides which were almost indistinguishable from normal. However, HPRT activity in erythrocyte lysates was only 9% of normal. In cell extracts of cultured lymphoblasts, the HPRT activity was 20% of control values and the APRT activity was normal. The PRPP concentration and the rate ofde novo purine synthesis in cultured lymphoblasts were both intermediate between controls and lymphoblasts from patients with the Lesch‐Nyhan syndrome.</description><subject>Adenine Phosphoribosyltransferase - blood</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Erythrocytes - analysis</subject><subject>Female</subject><subject>Humans</subject><subject>Hypoxanthine Phosphoribosyltransferase - deficiency</subject><subject>Kinetics</subject><subject>Lymphocytes - analysis</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Other metabolic disorders</subject><subject>Pentosephosphates - blood</subject><subject>Pentosyltransferases - blood</subject><subject>Phosphoribosyl Pyrophosphate - blood</subject><subject>Purines and pyrimidines (gout, hyperuricemia...)</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1987</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtOwkAUhidGg4hu3Jt0YVyYVOfS6XSWCCIYiITgujmdSxxTWuwUCTsfwWf0SSyB4M7VWfzf-c_Jh9AlwXcEY3H_MMBESBlJdoTahAsW0jjmx6iNSUTCRHJ-is68f8cYy4TzFmrRiAmWJG00GU5n85-v776xTjlTqE0A3pfKQW10sHb1W1CU1QLyYDqbTgNVFsoUdQW1K4sACh10m_0AVO0-Xb05RycWcm8u9rODXgeP894wHL88jXrdcagYpzTklDEdWaZBxKA1Y5mxlgqaZJaIjGFIslhag3UsYgMKmCLcSpJpLiIpNWcddLPrXVblx8r4Ol04r0yeQ2HKlU-F4LjxQBrwdgeqqvS-MjZdVm4B1SYlON26S__cNfDVvnWVLYw-oHtZTX69z8EryG0FhXL-gImIsiTePod32NrlZvPPwfR5NOljnFD2C_r8hIY</recordid><startdate>198703</startdate><enddate>198703</enddate><creator>Gordon, R. B.</creator><creator>Keough, D. T.</creator><creator>Emmerson, B. T.</creator><general>Kluwer Academic Publishers</general><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>198703</creationdate><title>HPRT‐Deficiency associated with normal PRPP concentration and APRT activity</title><author>Gordon, R. B. ; Keough, D. T. ; Emmerson, B. T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3522-5233d4f3da76add33beff2728bf17b30a8b69fe0d676eaca3c15f91bd57499d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1987</creationdate><topic>Adenine Phosphoribosyltransferase - blood</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Erythrocytes - analysis</topic><topic>Female</topic><topic>Humans</topic><topic>Hypoxanthine Phosphoribosyltransferase - deficiency</topic><topic>Kinetics</topic><topic>Lymphocytes - analysis</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Other metabolic disorders</topic><topic>Pentosephosphates - blood</topic><topic>Pentosyltransferases - blood</topic><topic>Phosphoribosyl Pyrophosphate - blood</topic><topic>Purines and pyrimidines (gout, hyperuricemia...)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gordon, R. B.</creatorcontrib><creatorcontrib>Keough, D. T.</creatorcontrib><creatorcontrib>Emmerson, B. T.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gordon, R. B.</au><au>Keough, D. T.</au><au>Emmerson, B. T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>HPRT‐Deficiency associated with normal PRPP concentration and APRT activity</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1987-03</date><risdate>1987</risdate><volume>10</volume><issue>1</issue><spage>82</spage><epage>88</epage><pages>82-88</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associated with severe hyperuricaemia and gout. Studies of intact erythrocytes showed rates of incorporation of [14C]hypoxanthine and of [14C]adenine into purine nucleotides which were almost indistinguishable from normal. However, HPRT activity in erythrocyte lysates was only 9% of normal. In cell extracts of cultured lymphoblasts, the HPRT activity was 20% of control values and the APRT activity was normal. The PRPP concentration and the rate ofde novo purine synthesis in cultured lymphoblasts were both intermediate between controls and lymphoblasts from patients with the Lesch‐Nyhan syndrome.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>2437388</pmid><doi>10.1007/BF01799493</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1987-03, Vol.10 (1), p.82-88 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; Springer Online Journals Complete |
| subjects | Adenine Phosphoribosyltransferase - blood Adult Biological and medical sciences Erythrocytes - analysis Female Humans Hypoxanthine Phosphoribosyltransferase - deficiency Kinetics Lymphocytes - analysis Male Medical sciences Metabolic diseases Middle Aged Other metabolic disorders Pentosephosphates - blood Pentosyltransferases - blood Phosphoribosyl Pyrophosphate - blood Purines and pyrimidines (gout, hyperuricemia...) |
| title | HPRT‐Deficiency associated with normal PRPP concentration and APRT activity |
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