Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population
Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (
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| Veröffentlicht in: | Irish medical journal 2019-12, Vol.112 (10), p.1016-1016 |
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| creator | Mesbah, Z Sing Ho, K Fitzsimons, P Monavari, A A Mayne, P D Crushell, E |
| description | Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children ( |
| format | Article |
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Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population data was used to calculate epidemiological figures. Results From 1998 to 2016, 17 children (<18 years) were diagnosed with MCADD including two patients whose initial presentation was fatal. The mean age at initial presentation was 1.48 years (Range: 0.005 to 2.86). The incidence was 1:71650 with mortality at 15.38%. No child subsequently died post diagnosis. The common c.985A>G mutation accounted for 88% of alleles. Conclusion The incidence of MCADD in Ireland is lower than global estimates. The potential for under-ascertainment and late diagnosis of cases exists in Ireland and is of concern for a treatable condition with a significant mortality when undiagnosed. The authors welcome the introduction of MCADD to the National Newborn Bloodspot Screening Program.</description><identifier>ISSN: 0332-3102</identifier><identifier>PMID: 32311243</identifier><language>eng</language><publisher>Ireland</publisher><subject>Acyl-CoA Dehydrogenase - deficiency ; Adolescent ; Child ; Child, Preschool ; Female ; Genetic Testing - methods ; Humans ; Incidence ; Infant ; Infant, Newborn ; Ireland ; Lipid Metabolism, Inborn Errors - diagnosis ; Lipid Metabolism, Inborn Errors - epidemiology ; Male ; Neonatal Screening - methods</subject><ispartof>Irish medical journal, 2019-12, Vol.112 (10), p.1016-1016</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32311243$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mesbah, Z</creatorcontrib><creatorcontrib>Sing Ho, K</creatorcontrib><creatorcontrib>Fitzsimons, P</creatorcontrib><creatorcontrib>Monavari, A A</creatorcontrib><creatorcontrib>Mayne, P D</creatorcontrib><creatorcontrib>Crushell, E</creatorcontrib><title>Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population</title><title>Irish medical journal</title><addtitle>Ir Med J</addtitle><description>Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population data was used to calculate epidemiological figures. Results From 1998 to 2016, 17 children (<18 years) were diagnosed with MCADD including two patients whose initial presentation was fatal. The mean age at initial presentation was 1.48 years (Range: 0.005 to 2.86). The incidence was 1:71650 with mortality at 15.38%. No child subsequently died post diagnosis. The common c.985A>G mutation accounted for 88% of alleles. Conclusion The incidence of MCADD in Ireland is lower than global estimates. The potential for under-ascertainment and late diagnosis of cases exists in Ireland and is of concern for a treatable condition with a significant mortality when undiagnosed. The authors welcome the introduction of MCADD to the National Newborn Bloodspot Screening Program.</description><subject>Acyl-CoA Dehydrogenase - deficiency</subject><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Genetic Testing - methods</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Ireland</subject><subject>Lipid Metabolism, Inborn Errors - diagnosis</subject><subject>Lipid Metabolism, Inborn Errors - epidemiology</subject><subject>Male</subject><subject>Neonatal Screening - methods</subject><issn>0332-3102</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kEtPg0AURmehsbX6F8ws64JkuBcKLAn10aSNXejCFbnMXGQMLxlY8O8lsa5OvuTkLL4rsVaI4KGvYCVunftWCgEjuBGrhb4PAa7F54mNnRqZVWRbmeq59rIulXuuZjN0X9yS42WVVltu9Sy3pyzd7x_lIo8Vy8NgXSXPtERoHKyW566fahpt196J65Jqx_cXbsTH89N79uod314OWXr0eh92o2dCpdHoXUAMCoukiHaJARVHBEYrNhDFYYhUAMWh9ksivyyLCEKjkiCODOJGbP-6_dD9TOzGvLFOc11Ty93kcsAEVRCEGC_qw0WdioZN3g-2oWHO_-_AX12HWWA</recordid><startdate>20191216</startdate><enddate>20191216</enddate><creator>Mesbah, Z</creator><creator>Sing Ho, K</creator><creator>Fitzsimons, P</creator><creator>Monavari, A A</creator><creator>Mayne, P D</creator><creator>Crushell, E</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20191216</creationdate><title>Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population</title><author>Mesbah, Z ; Sing Ho, K ; Fitzsimons, P ; Monavari, A A ; Mayne, P D ; Crushell, E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p126t-d50c3dc64ae203b9b769d2087a2dc0ed278553ab2a85c1faa1ffb725d09487d33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Acyl-CoA Dehydrogenase - deficiency</topic><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Genetic Testing - methods</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Ireland</topic><topic>Lipid Metabolism, Inborn Errors - diagnosis</topic><topic>Lipid Metabolism, Inborn Errors - epidemiology</topic><topic>Male</topic><topic>Neonatal Screening - methods</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mesbah, Z</creatorcontrib><creatorcontrib>Sing Ho, K</creatorcontrib><creatorcontrib>Fitzsimons, P</creatorcontrib><creatorcontrib>Monavari, A A</creatorcontrib><creatorcontrib>Mayne, P D</creatorcontrib><creatorcontrib>Crushell, E</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Irish medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mesbah, Z</au><au>Sing Ho, K</au><au>Fitzsimons, P</au><au>Monavari, A A</au><au>Mayne, P D</au><au>Crushell, E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population</atitle><jtitle>Irish medical journal</jtitle><addtitle>Ir Med J</addtitle><date>2019-12-16</date><risdate>2019</risdate><volume>112</volume><issue>10</issue><spage>1016</spage><epage>1016</epage><pages>1016-1016</pages><issn>0332-3102</issn><abstract>Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population data was used to calculate epidemiological figures. Results From 1998 to 2016, 17 children (<18 years) were diagnosed with MCADD including two patients whose initial presentation was fatal. The mean age at initial presentation was 1.48 years (Range: 0.005 to 2.86). The incidence was 1:71650 with mortality at 15.38%. No child subsequently died post diagnosis. The common c.985A>G mutation accounted for 88% of alleles. Conclusion The incidence of MCADD in Ireland is lower than global estimates. The potential for under-ascertainment and late diagnosis of cases exists in Ireland and is of concern for a treatable condition with a significant mortality when undiagnosed. The authors welcome the introduction of MCADD to the National Newborn Bloodspot Screening Program.</abstract><cop>Ireland</cop><pmid>32311243</pmid><tpages>1</tpages></addata></record> |
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| ispartof | Irish medical journal, 2019-12, Vol.112 (10), p.1016-1016 |
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| subjects | Acyl-CoA Dehydrogenase - deficiency Adolescent Child Child, Preschool Female Genetic Testing - methods Humans Incidence Infant Infant, Newborn Ireland Lipid Metabolism, Inborn Errors - diagnosis Lipid Metabolism, Inborn Errors - epidemiology Male Neonatal Screening - methods |
| title | Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population |
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