Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Although octanoylcarnitine (C8) concentrations measured from newborn screening dried blood spots are used to identify those at high risk of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), age-related reference values are currently not available for unaffected newborn populations. Because age...
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| Veröffentlicht in: | Clinical chemistry (Baltimore, Md.) Md.), 2010-06, Vol.56 (6), p.1015-1021 |
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| creator | KHALID, Javaria M OERTON, Juliet DEZATEUX, Carol BESLEY, Guy DALTON, Neil DOWNING, Melanie GREEN, Anne HENDERSON, Mick KRYWAWYCH, Steve WILEY, Veronica WILCKEN, Bridget |
| description | Although octanoylcarnitine (C8) concentrations measured from newborn screening dried blood spots are used to identify those at high risk of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), age-related reference values are currently not available for unaffected newborn populations. Because age at sampling may vary within and between screening programs, variations in C8 concentrations by age may affect screening program performance. We determined whether C8 concentrations vary by age at sampling, sex, birth weight, or gestational age in unaffected newborns.
We analyzed C8 concentrations from 227,098 unaffected newborns, including 179,729 from 6 English laboratories participating in a multicenter study and 47,369 from the single laboratory serving the New South Wales (NSW) Newborn Screening Program in Australia. In England, the majority of samples were collected at age 5-8 days and analyzed underivatized by use of tandem mass spectrometry (MS/MS); in NSW, samples were obtained at a median age of 3 days and analyzed derivatized by MS/MS. Information on infants' sex, birth weight, gestation, hospitalization, and transfusion status was recorded at time of sampling.
C8 concentrations did not vary significantly by age at sampling, sex, birth weight, or gestational age and remained relatively constant during the first 2 weeks of life in unaffected babies being screened for MCADD.
Newborn MCADD screening programs using this biomarker for screening samples collected after the first day and during the first 14 days of life do not need to adjust cutoff values to account for postnatal age, prematurity, or size at birth. |
| doi_str_mv | 10.1373/clinchem.2010.143891 |
| format | Article |
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We analyzed C8 concentrations from 227,098 unaffected newborns, including 179,729 from 6 English laboratories participating in a multicenter study and 47,369 from the single laboratory serving the New South Wales (NSW) Newborn Screening Program in Australia. In England, the majority of samples were collected at age 5-8 days and analyzed underivatized by use of tandem mass spectrometry (MS/MS); in NSW, samples were obtained at a median age of 3 days and analyzed derivatized by MS/MS. Information on infants' sex, birth weight, gestation, hospitalization, and transfusion status was recorded at time of sampling.
C8 concentrations did not vary significantly by age at sampling, sex, birth weight, or gestational age and remained relatively constant during the first 2 weeks of life in unaffected babies being screened for MCADD.
Newborn MCADD screening programs using this biomarker for screening samples collected after the first day and during the first 14 days of life do not need to adjust cutoff values to account for postnatal age, prematurity, or size at birth.</description><identifier>ISSN: 0009-9147</identifier><identifier>EISSN: 1530-8561</identifier><identifier>DOI: 10.1373/clinchem.2010.143891</identifier><identifier>PMID: 20413428</identifier><identifier>CODEN: CLCHAU</identifier><language>eng</language><publisher>Washington, DC: American Association for Clinical Chemistry</publisher><subject>Acyl-CoA Dehydrogenase - deficiency ; Age Factors ; Amino Acid Metabolism, Inborn Errors - diagnosis ; Analytical, structural and metabolic biochemistry ; Australia ; Babies ; Biological and medical sciences ; Biomedical research ; Birth weight ; Births ; Carnitine - analogs & derivatives ; Carnitine - blood ; Data collection ; Dehydrogenase ; England ; Female ; Fundamental and applied biological sciences. Psychology ; Humans ; Infant, Newborn ; Investigative techniques, diagnostic techniques (general aspects) ; Male ; Mass spectrometry ; Medical research ; Medical sciences ; Medical screening ; Molecular biophysics ; Newborn babies</subject><ispartof>Clinical chemistry (Baltimore, Md.), 2010-06, Vol.56 (6), p.1015-1021</ispartof><rights>2015 INIST-CNRS</rights><rights>Copyright American Association for Clinical Chemistry Jun 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c409t-80973812e3b610de5c5e4776a9dc0faaf89bb053c3757c3a964400dd229144b43</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22884733$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20413428$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KHALID, Javaria M</creatorcontrib><creatorcontrib>OERTON, Juliet</creatorcontrib><creatorcontrib>DEZATEUX, Carol</creatorcontrib><creatorcontrib>BESLEY, Guy</creatorcontrib><creatorcontrib>DALTON, Neil</creatorcontrib><creatorcontrib>DOWNING, Melanie</creatorcontrib><creatorcontrib>GREEN, Anne</creatorcontrib><creatorcontrib>HENDERSON, Mick</creatorcontrib><creatorcontrib>KRYWAWYCH, Steve</creatorcontrib><creatorcontrib>WILEY, Veronica</creatorcontrib><creatorcontrib>WILCKEN, Bridget</creatorcontrib><creatorcontrib>UK Collaborative Study of Newborn Screening for MCADD</creatorcontrib><creatorcontrib>on behalf of the UK Collaborative Study of Newborn Screening for MCADD</creatorcontrib><title>Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency</title><title>Clinical chemistry (Baltimore, Md.)</title><addtitle>Clin Chem</addtitle><description>Although octanoylcarnitine (C8) concentrations measured from newborn screening dried blood spots are used to identify those at high risk of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), age-related reference values are currently not available for unaffected newborn populations. Because age at sampling may vary within and between screening programs, variations in C8 concentrations by age may affect screening program performance. We determined whether C8 concentrations vary by age at sampling, sex, birth weight, or gestational age in unaffected newborns.
We analyzed C8 concentrations from 227,098 unaffected newborns, including 179,729 from 6 English laboratories participating in a multicenter study and 47,369 from the single laboratory serving the New South Wales (NSW) Newborn Screening Program in Australia. In England, the majority of samples were collected at age 5-8 days and analyzed underivatized by use of tandem mass spectrometry (MS/MS); in NSW, samples were obtained at a median age of 3 days and analyzed derivatized by MS/MS. Information on infants' sex, birth weight, gestation, hospitalization, and transfusion status was recorded at time of sampling.
C8 concentrations did not vary significantly by age at sampling, sex, birth weight, or gestational age and remained relatively constant during the first 2 weeks of life in unaffected babies being screened for MCADD.
Newborn MCADD screening programs using this biomarker for screening samples collected after the first day and during the first 14 days of life do not need to adjust cutoff values to account for postnatal age, prematurity, or size at birth.</description><subject>Acyl-CoA Dehydrogenase - deficiency</subject><subject>Age Factors</subject><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Analytical, structural and metabolic biochemistry</subject><subject>Australia</subject><subject>Babies</subject><subject>Biological and medical sciences</subject><subject>Biomedical research</subject><subject>Birth weight</subject><subject>Births</subject><subject>Carnitine - analogs & derivatives</subject><subject>Carnitine - blood</subject><subject>Data collection</subject><subject>Dehydrogenase</subject><subject>England</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Male</subject><subject>Mass spectrometry</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Medical screening</subject><subject>Molecular biophysics</subject><subject>Newborn babies</subject><issn>0009-9147</issn><issn>1530-8561</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkd-K1DAUh4Mo7rj6BiJBEK-6Jk3aJJdD_QurC657XdL0ZCZLm4xJivRFfF4zzKyCV4dz-M7hx_kQeknJFWWCvTOT82YP81VNjiPOpKKP0IY2jFSyaeljtCGEqEpRLi7Qs5TuS8uFbJ-ii5pwyngtN-j3d5h0dsGnvTvgYPGNydqHdTI6epedB9wFb8DneMJwDni7A6wzvtXzoYTYYefxndfWgskw4m_wawixkLcmAvgysSHirzC6Za66vS701qxT1YUtfg_7dYxhB14nKJ11xoE363P0xOopwYtzvUR3Hz_86D5X1zefvnTb68pwonIliRJM0hrY0FIyQmMa4EK0Wo2GWK2tVMNAGmaYaIRhWrWcEzKOdV2-wgfOLtHb091DDD8XSLmfXTIwTdpDWFIvGKN107CmkK__I-_DEn0J13OlWimkIgXiJ8jEkFIE2x-im3Vce0r6o7X-wVp_tNafrJW1V-fbyzDD-HfpQVMB3pwBnYyebNTeuPSPq6XkJSr7A14ro0c</recordid><startdate>20100601</startdate><enddate>20100601</enddate><creator>KHALID, Javaria M</creator><creator>OERTON, Juliet</creator><creator>DEZATEUX, Carol</creator><creator>BESLEY, Guy</creator><creator>DALTON, Neil</creator><creator>DOWNING, Melanie</creator><creator>GREEN, Anne</creator><creator>HENDERSON, Mick</creator><creator>KRYWAWYCH, Steve</creator><creator>WILEY, Veronica</creator><creator>WILCKEN, Bridget</creator><general>American Association for Clinical Chemistry</general><general>Oxford University Press</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>3V.</scope><scope>4U-</scope><scope>7QO</scope><scope>7RV</scope><scope>7TM</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>BKSAR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PCBAR</scope><scope>PDBOC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>S0X</scope><scope>7X8</scope></search><sort><creationdate>20100601</creationdate><title>Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency</title><author>KHALID, Javaria M ; OERTON, Juliet ; DEZATEUX, Carol ; BESLEY, Guy ; DALTON, Neil ; DOWNING, Melanie ; GREEN, Anne ; HENDERSON, Mick ; KRYWAWYCH, Steve ; WILEY, Veronica ; WILCKEN, Bridget</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c409t-80973812e3b610de5c5e4776a9dc0faaf89bb053c3757c3a964400dd229144b43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Acyl-CoA Dehydrogenase - deficiency</topic><topic>Age Factors</topic><topic>Amino Acid Metabolism, Inborn Errors - diagnosis</topic><topic>Analytical, structural and metabolic biochemistry</topic><topic>Australia</topic><topic>Babies</topic><topic>Biological and medical sciences</topic><topic>Biomedical research</topic><topic>Birth weight</topic><topic>Births</topic><topic>Carnitine - analogs & derivatives</topic><topic>Carnitine - blood</topic><topic>Data collection</topic><topic>Dehydrogenase</topic><topic>England</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. 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Academic</collection><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KHALID, Javaria M</au><au>OERTON, Juliet</au><au>DEZATEUX, Carol</au><au>BESLEY, Guy</au><au>DALTON, Neil</au><au>DOWNING, Melanie</au><au>GREEN, Anne</au><au>HENDERSON, Mick</au><au>KRYWAWYCH, Steve</au><au>WILEY, Veronica</au><au>WILCKEN, Bridget</au><aucorp>UK Collaborative Study of Newborn Screening for MCADD</aucorp><aucorp>on behalf of the UK Collaborative Study of Newborn Screening for MCADD</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency</atitle><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle><addtitle>Clin Chem</addtitle><date>2010-06-01</date><risdate>2010</risdate><volume>56</volume><issue>6</issue><spage>1015</spage><epage>1021</epage><pages>1015-1021</pages><issn>0009-9147</issn><eissn>1530-8561</eissn><coden>CLCHAU</coden><abstract>Although octanoylcarnitine (C8) concentrations measured from newborn screening dried blood spots are used to identify those at high risk of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), age-related reference values are currently not available for unaffected newborn populations. Because age at sampling may vary within and between screening programs, variations in C8 concentrations by age may affect screening program performance. We determined whether C8 concentrations vary by age at sampling, sex, birth weight, or gestational age in unaffected newborns.
We analyzed C8 concentrations from 227,098 unaffected newborns, including 179,729 from 6 English laboratories participating in a multicenter study and 47,369 from the single laboratory serving the New South Wales (NSW) Newborn Screening Program in Australia. In England, the majority of samples were collected at age 5-8 days and analyzed underivatized by use of tandem mass spectrometry (MS/MS); in NSW, samples were obtained at a median age of 3 days and analyzed derivatized by MS/MS. Information on infants' sex, birth weight, gestation, hospitalization, and transfusion status was recorded at time of sampling.
C8 concentrations did not vary significantly by age at sampling, sex, birth weight, or gestational age and remained relatively constant during the first 2 weeks of life in unaffected babies being screened for MCADD.
Newborn MCADD screening programs using this biomarker for screening samples collected after the first day and during the first 14 days of life do not need to adjust cutoff values to account for postnatal age, prematurity, or size at birth.</abstract><cop>Washington, DC</cop><pub>American Association for Clinical Chemistry</pub><pmid>20413428</pmid><doi>10.1373/clinchem.2010.143891</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Clinical chemistry (Baltimore, Md.), 2010-06, Vol.56 (6), p.1015-1021 |
| issn | 0009-9147 1530-8561 |
| language | eng |
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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current) |
| subjects | Acyl-CoA Dehydrogenase - deficiency Age Factors Amino Acid Metabolism, Inborn Errors - diagnosis Analytical, structural and metabolic biochemistry Australia Babies Biological and medical sciences Biomedical research Birth weight Births Carnitine - analogs & derivatives Carnitine - blood Data collection Dehydrogenase England Female Fundamental and applied biological sciences. Psychology Humans Infant, Newborn Investigative techniques, diagnostic techniques (general aspects) Male Mass spectrometry Medical research Medical sciences Medical screening Molecular biophysics Newborn babies |
| title | Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
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