Increased HVA detected on organic acid analysis in a patient with Costello syndrome
Summary Urine organic acid analysis is routinely performed to investigate inborn errors of metbolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (H...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2005-12, Vol.28 (6), p.1155-1156 |
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| container_end_page | 1156 |
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| container_issue | 6 |
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| container_title | Journal of inherited metabolic disease |
| container_volume | 28 |
| creator | Bowron, A. Scott, J. G. Brewer, C. Weir, P. |
| description | Summary
Urine organic acid analysis is routinely performed to investigate inborn errors of metbolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (HVA) on urine organic acid analysis which was not associated with medication or a neuroendocrine tumour but with Costello syndrome. |
| doi_str_mv | 10.1007/s10545-005-0124-8 |
| format | Article |
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Urine organic acid analysis is routinely performed to investigate inborn errors of metbolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (HVA) on urine organic acid analysis which was not associated with medication or a neuroendocrine tumour but with Costello syndrome.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-005-0124-8</identifier><identifier>PMID: 16435215</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Biological and medical sciences ; Birth Weight ; Cardiomyopathies - pathology ; Catecholamines - metabolism ; Complex syndromes ; Developmental Disabilities ; Homovanillic Acid - urine ; Human viral diseases ; Humans ; Infant ; Infectious diseases ; Male ; Medical genetics ; Medical sciences ; Metabolic diseases ; Metabolism, Inborn Errors - diagnosis ; Syndrome ; Viral diseases ; Viral hepatitis</subject><ispartof>Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1155-1156</ispartof><rights>2005 SSIEM</rights><rights>2006 INIST-CNRS</rights><rights>SSIEM and Springer 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4045-3a1bf4427eb40f7a2cf0b7698e7967acfc2df090daf3f8292d6875194c679b4b3</citedby><cites>FETCH-LOGICAL-c4045-3a1bf4427eb40f7a2cf0b7698e7967acfc2df090daf3f8292d6875194c679b4b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1007%2Fs10545-005-0124-8$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1007%2Fs10545-005-0124-8$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17465122$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16435215$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bowron, A.</creatorcontrib><creatorcontrib>Scott, J. G.</creatorcontrib><creatorcontrib>Brewer, C.</creatorcontrib><creatorcontrib>Weir, P.</creatorcontrib><title>Increased HVA detected on organic acid analysis in a patient with Costello syndrome</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Summary
Urine organic acid analysis is routinely performed to investigate inborn errors of metbolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (HVA) on urine organic acid analysis which was not associated with medication or a neuroendocrine tumour but with Costello syndrome.</description><subject>Biological and medical sciences</subject><subject>Birth Weight</subject><subject>Cardiomyopathies - pathology</subject><subject>Catecholamines - metabolism</subject><subject>Complex syndromes</subject><subject>Developmental Disabilities</subject><subject>Homovanillic Acid - urine</subject><subject>Human viral diseases</subject><subject>Humans</subject><subject>Infant</subject><subject>Infectious diseases</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metabolism, Inborn Errors - diagnosis</subject><subject>Syndrome</subject><subject>Viral diseases</subject><subject>Viral hepatitis</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkEuLFDEQgIMo7uzqD_AiQdBba1U6rz4us7o7suLBxzWk04lm6UnGpIdl_r1ZZmDBi4eiKPjq9RHyCuE9AqgPFUFw0QG0QMY7_YSsUKi-Y1KKp2QFyLHTgxBn5LzWOwAYtBDPyRlK3guGYkW-bZIr3lY_0Zufl3Tyi3dLK3KiufyyKTpqXZyoTXY-1FhpTNTSnV2iTwu9j8tvus518fOcaT2kqeStf0GeBTtX__KUL8iPTx-_r2-626_Xm_Xlbec4tLN7i2PgnCk_cgjKMhdgVHLQXg1SWRccmwIMMNnQB80GNkmtBA7cSTWMfOwvyLvj3F3Jf_a-LmYbq2un2OTzvho5gNIKsIFv_gHv8r60j6phqLVkohcNwiPkSq61-GB2JW5tORgE86DbHHWbpts86Da69bw-Dd6PWz89dpz8NuDtCbDV2TkUm1ysj5ziUiBjjVNH7j7O_vD_zebz5ssVohD9X67Dlso</recordid><startdate>200512</startdate><enddate>200512</enddate><creator>Bowron, A.</creator><creator>Scott, J. 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G. ; Brewer, C. ; Weir, P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4045-3a1bf4427eb40f7a2cf0b7698e7967acfc2df090daf3f8292d6875194c679b4b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Biological and medical sciences</topic><topic>Birth Weight</topic><topic>Cardiomyopathies - pathology</topic><topic>Catecholamines - metabolism</topic><topic>Complex syndromes</topic><topic>Developmental Disabilities</topic><topic>Homovanillic Acid - urine</topic><topic>Human viral diseases</topic><topic>Humans</topic><topic>Infant</topic><topic>Infectious diseases</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism, Inborn Errors - diagnosis</topic><topic>Syndrome</topic><topic>Viral diseases</topic><topic>Viral hepatitis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bowron, A.</creatorcontrib><creatorcontrib>Scott, J. 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G.</au><au>Brewer, C.</au><au>Weir, P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Increased HVA detected on organic acid analysis in a patient with Costello syndrome</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2005-12</date><risdate>2005</risdate><volume>28</volume><issue>6</issue><spage>1155</spage><epage>1156</epage><pages>1155-1156</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Summary
Urine organic acid analysis is routinely performed to investigate inborn errors of metbolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (HVA) on urine organic acid analysis which was not associated with medication or a neuroendocrine tumour but with Costello syndrome.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>16435215</pmid><doi>10.1007/s10545-005-0124-8</doi><tpages>2</tpages></addata></record> |
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| ispartof | Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1155-1156 |
| issn | 0141-8955 1573-2665 |
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| source | MEDLINE; Access via Wiley Online Library; SpringerLink Journals - AutoHoldings |
| subjects | Biological and medical sciences Birth Weight Cardiomyopathies - pathology Catecholamines - metabolism Complex syndromes Developmental Disabilities Homovanillic Acid - urine Human viral diseases Humans Infant Infectious diseases Male Medical genetics Medical sciences Metabolic diseases Metabolism, Inborn Errors - diagnosis Syndrome Viral diseases Viral hepatitis |
| title | Increased HVA detected on organic acid analysis in a patient with Costello syndrome |
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