The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome
The urinary excretion of aminoimidazolecarboxamide (AIC), an intermediate in purine synthesis, was studied in five patients with the Lesch-Nyhan syndrome. The mean urinary AIC level for these subjects was 12.03 ± 6.9 mg AIC/mg creatinine as compared to a mean urinary excretion in normal subjects of...
Gespeichert in:
| Veröffentlicht in: | Pediatrics (Evanston) 1970-10, Vol.46 (4), p.508-512 |
|---|---|
| 1. Verfasser: | |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 512 |
|---|---|
| container_issue | 4 |
| container_start_page | 508 |
| container_title | Pediatrics (Evanston) |
| container_volume | 46 |
| creator | Newcombe, D S |
| description | The urinary excretion of aminoimidazolecarboxamide (AIC), an intermediate in purine synthesis, was studied in five patients with the Lesch-Nyhan syndrome. The mean urinary AIC level for these subjects was 12.03 ± 6.9 mg AIC/mg creatinine as compared to a mean urinary excretion in normal subjects of 1.2 ± 0.6 mg AIC/mg creatinine. None of the patients had clinical evidence of megaloblastic anemia at the time of the study, and their serum folate levels were within the normal range. The increased urinary AIC excretion probably represents a reflection of the deranged purine metabolism in this syndrome and its measurement can be used as a screen for the Lesch-Nyhan syndrome and other disorders of purine and/or folate metabolism. |
| doi_str_mv | 10.1542/peds.46.4.508 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_80797320</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>80797320</sourcerecordid><originalsourceid>FETCH-LOGICAL-c288t-446fe3525e3cbd7e287cf37cf8cdec5d47f98a582dd1b8d976fa6f93ee5cc9483</originalsourceid><addsrcrecordid>eNo9kD1rwzAQhkVpSdO0Y8eCp252ZX1Y8lhCvyCkSzoLWToRFdtKJRuS_vo6JHQ4Do7nfeEehO5LXJSckacd2FSwqmAFx_ICzUtcy5wRwS_RHGNa5gxjfo1uUvrGGDMuyAzNOMe0ktUcrTdbyMboex0PGexNhMGHPgsu053vg--81b-hBaNjE_bTzULm-2yYUitIZpuvD1vdZ-nQ2xg6uEVXTrcJ7s57gb5eXzbL93z1-faxfF7lhkg55IxVDignHKhprAAihXF0GmksGG6ZcLXUXBJry0baWlROV66mANyYmkm6QI-n3l0MPyOkQXU-GWhb3UMYk5JY1IISPIH5CTQxpBTBqV303fSsKrE6-lNHf4pViqnJ38Q_nIvHpgP7T5-F0T8UEm3-</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>80797320</pqid></control><display><type>article</type><title>The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Newcombe, D S</creator><creatorcontrib>Newcombe, D S</creatorcontrib><description>The urinary excretion of aminoimidazolecarboxamide (AIC), an intermediate in purine synthesis, was studied in five patients with the Lesch-Nyhan syndrome. The mean urinary AIC level for these subjects was 12.03 ± 6.9 mg AIC/mg creatinine as compared to a mean urinary excretion in normal subjects of 1.2 ± 0.6 mg AIC/mg creatinine. None of the patients had clinical evidence of megaloblastic anemia at the time of the study, and their serum folate levels were within the normal range. The increased urinary AIC excretion probably represents a reflection of the deranged purine metabolism in this syndrome and its measurement can be used as a screen for the Lesch-Nyhan syndrome and other disorders of purine and/or folate metabolism.</description><identifier>ISSN: 0031-4005</identifier><identifier>EISSN: 1098-4275</identifier><identifier>DOI: 10.1542/peds.46.4.508</identifier><identifier>PMID: 5503686</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Athetosis - genetics ; Athetosis - urine ; Child ; Child, Preschool ; Chorea - genetics ; Chorea - urine ; Compulsive Behavior ; Female ; Folic Acid - blood ; Humans ; Imidazoles - urine ; Intellectual Disability - urine ; Male ; Purine-Pyrimidine Metabolism, Inborn Errors - urine ; Self Mutilation ; Uric Acid - blood</subject><ispartof>Pediatrics (Evanston), 1970-10, Vol.46 (4), p.508-512</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c288t-446fe3525e3cbd7e287cf37cf8cdec5d47f98a582dd1b8d976fa6f93ee5cc9483</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/5503686$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Newcombe, D S</creatorcontrib><title>The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome</title><title>Pediatrics (Evanston)</title><addtitle>Pediatrics</addtitle><description>The urinary excretion of aminoimidazolecarboxamide (AIC), an intermediate in purine synthesis, was studied in five patients with the Lesch-Nyhan syndrome. The mean urinary AIC level for these subjects was 12.03 ± 6.9 mg AIC/mg creatinine as compared to a mean urinary excretion in normal subjects of 1.2 ± 0.6 mg AIC/mg creatinine. None of the patients had clinical evidence of megaloblastic anemia at the time of the study, and their serum folate levels were within the normal range. The increased urinary AIC excretion probably represents a reflection of the deranged purine metabolism in this syndrome and its measurement can be used as a screen for the Lesch-Nyhan syndrome and other disorders of purine and/or folate metabolism.</description><subject>Adolescent</subject><subject>Athetosis - genetics</subject><subject>Athetosis - urine</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chorea - genetics</subject><subject>Chorea - urine</subject><subject>Compulsive Behavior</subject><subject>Female</subject><subject>Folic Acid - blood</subject><subject>Humans</subject><subject>Imidazoles - urine</subject><subject>Intellectual Disability - urine</subject><subject>Male</subject><subject>Purine-Pyrimidine Metabolism, Inborn Errors - urine</subject><subject>Self Mutilation</subject><subject>Uric Acid - blood</subject><issn>0031-4005</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1970</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kD1rwzAQhkVpSdO0Y8eCp252ZX1Y8lhCvyCkSzoLWToRFdtKJRuS_vo6JHQ4Do7nfeEehO5LXJSckacd2FSwqmAFx_ICzUtcy5wRwS_RHGNa5gxjfo1uUvrGGDMuyAzNOMe0ktUcrTdbyMboex0PGexNhMGHPgsu053vg--81b-hBaNjE_bTzULm-2yYUitIZpuvD1vdZ-nQ2xg6uEVXTrcJ7s57gb5eXzbL93z1-faxfF7lhkg55IxVDignHKhprAAihXF0GmksGG6ZcLXUXBJry0baWlROV66mANyYmkm6QI-n3l0MPyOkQXU-GWhb3UMYk5JY1IISPIH5CTQxpBTBqV303fSsKrE6-lNHf4pViqnJ38Q_nIvHpgP7T5-F0T8UEm3-</recordid><startdate>197010</startdate><enddate>197010</enddate><creator>Newcombe, D S</creator><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>197010</creationdate><title>The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome</title><author>Newcombe, D S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c288t-446fe3525e3cbd7e287cf37cf8cdec5d47f98a582dd1b8d976fa6f93ee5cc9483</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1970</creationdate><topic>Adolescent</topic><topic>Athetosis - genetics</topic><topic>Athetosis - urine</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chorea - genetics</topic><topic>Chorea - urine</topic><topic>Compulsive Behavior</topic><topic>Female</topic><topic>Folic Acid - blood</topic><topic>Humans</topic><topic>Imidazoles - urine</topic><topic>Intellectual Disability - urine</topic><topic>Male</topic><topic>Purine-Pyrimidine Metabolism, Inborn Errors - urine</topic><topic>Self Mutilation</topic><topic>Uric Acid - blood</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Newcombe, D S</creatorcontrib><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>Pediatrics (Evanston)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Newcombe, D S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome</atitle><jtitle>Pediatrics (Evanston)</jtitle><addtitle>Pediatrics</addtitle><date>1970-10</date><risdate>1970</risdate><volume>46</volume><issue>4</issue><spage>508</spage><epage>512</epage><pages>508-512</pages><issn>0031-4005</issn><eissn>1098-4275</eissn><abstract>The urinary excretion of aminoimidazolecarboxamide (AIC), an intermediate in purine synthesis, was studied in five patients with the Lesch-Nyhan syndrome. The mean urinary AIC level for these subjects was 12.03 ± 6.9 mg AIC/mg creatinine as compared to a mean urinary excretion in normal subjects of 1.2 ± 0.6 mg AIC/mg creatinine. None of the patients had clinical evidence of megaloblastic anemia at the time of the study, and their serum folate levels were within the normal range. The increased urinary AIC excretion probably represents a reflection of the deranged purine metabolism in this syndrome and its measurement can be used as a screen for the Lesch-Nyhan syndrome and other disorders of purine and/or folate metabolism.</abstract><cop>United States</cop><pmid>5503686</pmid><doi>10.1542/peds.46.4.508</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0031-4005 |
| ispartof | Pediatrics (Evanston), 1970-10, Vol.46 (4), p.508-512 |
| issn | 0031-4005 1098-4275 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_80797320 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Adolescent Athetosis - genetics Athetosis - urine Child Child, Preschool Chorea - genetics Chorea - urine Compulsive Behavior Female Folic Acid - blood Humans Imidazoles - urine Intellectual Disability - urine Male Purine-Pyrimidine Metabolism, Inborn Errors - urine Self Mutilation Uric Acid - blood |
| title | The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-28T16%3A13%3A50IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20urinary%20excretion%20of%20aminoimidazolecarboxamide%20in%20the%20Lesch-Nyhan%20syndrome&rft.jtitle=Pediatrics%20(Evanston)&rft.au=Newcombe,%20D%20S&rft.date=1970-10&rft.volume=46&rft.issue=4&rft.spage=508&rft.epage=512&rft.pages=508-512&rft.issn=0031-4005&rft.eissn=1098-4275&rft_id=info:doi/10.1542/peds.46.4.508&rft_dat=%3Cproquest_cross%3E80797320%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=80797320&rft_id=info:pmid/5503686&rfr_iscdi=true |