High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota
Summary Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorim...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2009-12, Vol.32 (Suppl 1), p.169-173 |
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| creator | Sarafoglou, K. Bentler, K. Gaviglio, A. Redlinger-Grosse, K. Anderson, C. McCann, M. Bloom, B. Babovic-Vuksanovic, D. Gavrilov, D. Berry, S. A. |
| description | Summary
Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorimetric system during the period of this study by MN NBS. Five cases of profound BTD (0.1 to |
| doi_str_mv | 10.1007/s10545-009-1135-7 |
| format | Article |
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Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorimetric system during the period of this study by MN NBS. Five cases of profound BTD (0.1 to <0.6 nmol/min per ml) and 26 cases of partial BTD (0.9 to 2.3 nmol/min per ml) were later confirmed through measurement of serum biotinidase activity. The incidence of combined partial and profound BTD of 1/8540 and that of profound BTD of 1/52 945 in Minnesota are unusually high in comparison with the reported worldwide numbers of 1/61 067 for combined BTD and 1/137 401 for profound BTD. Four out of the 5 cases of profound BTD ascertained in the MN NBS cohort were of Somali ethnic background, and the remaining case was of Asian (Pakistani/Indian) ethnic background. All four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation. The three compound heterozygotes all have a novel mutation (P142T) and two of them have another change (Y428Y) that has never been described. Within the last two decades, Minnesota has become home to an estimated 40 000 Somali immigrants and their children (<1% of the total Minnesota population). New population demographics prompt careful analysis of case cohorts to identify specific groups at risk for rare inborn errors of metabolism.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-009-1135-7</identifier><identifier>PMID: 19757147</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Biochemistry ; Biotinidase - genetics ; Biotinidase Deficiency - enzymology ; Biotinidase Deficiency - epidemiology ; Biotinidase Deficiency - genetics ; Female ; Genetic Carrier Screening ; Homozygote ; Human Genetics ; Humans ; Incidence ; Infant, Newborn ; Internal Medicine ; Male ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Minnesota - epidemiology ; Mutation ; Neonatal Screening ; Online Report ; Pediatrics ; Somalia - ethnology</subject><ispartof>Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.169-173</ispartof><rights>Springer Science+Business Media B.V. 2009</rights><rights>2009 SSIEM</rights><rights>SSIEM and Springer Science+Business Media Dordrecht 2009</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4209-ac8268bf696333c660f07e88f2273a03bb274019003b3416bf6db984f64f6ffd3</citedby><cites>FETCH-LOGICAL-c4209-ac8268bf696333c660f07e88f2273a03bb274019003b3416bf6db984f64f6ffd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10545-009-1135-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-009-1135-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,1416,27915,27916,41479,42548,45565,45566,51310</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19757147$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sarafoglou, K.</creatorcontrib><creatorcontrib>Bentler, K.</creatorcontrib><creatorcontrib>Gaviglio, A.</creatorcontrib><creatorcontrib>Redlinger-Grosse, K.</creatorcontrib><creatorcontrib>Anderson, C.</creatorcontrib><creatorcontrib>McCann, M.</creatorcontrib><creatorcontrib>Bloom, B.</creatorcontrib><creatorcontrib>Babovic-Vuksanovic, D.</creatorcontrib><creatorcontrib>Gavrilov, D.</creatorcontrib><creatorcontrib>Berry, S. A.</creatorcontrib><title>High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>Summary
Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorimetric system during the period of this study by MN NBS. Five cases of profound BTD (0.1 to <0.6 nmol/min per ml) and 26 cases of partial BTD (0.9 to 2.3 nmol/min per ml) were later confirmed through measurement of serum biotinidase activity. The incidence of combined partial and profound BTD of 1/8540 and that of profound BTD of 1/52 945 in Minnesota are unusually high in comparison with the reported worldwide numbers of 1/61 067 for combined BTD and 1/137 401 for profound BTD. Four out of the 5 cases of profound BTD ascertained in the MN NBS cohort were of Somali ethnic background, and the remaining case was of Asian (Pakistani/Indian) ethnic background. All four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation. The three compound heterozygotes all have a novel mutation (P142T) and two of them have another change (Y428Y) that has never been described. Within the last two decades, Minnesota has become home to an estimated 40 000 Somali immigrants and their children (<1% of the total Minnesota population). New population demographics prompt careful analysis of case cohorts to identify specific groups at risk for rare inborn errors of metabolism.</description><subject>Biochemistry</subject><subject>Biotinidase - genetics</subject><subject>Biotinidase Deficiency - enzymology</subject><subject>Biotinidase Deficiency - epidemiology</subject><subject>Biotinidase Deficiency - genetics</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Homozygote</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant, Newborn</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Minnesota - epidemiology</subject><subject>Mutation</subject><subject>Neonatal Screening</subject><subject>Online Report</subject><subject>Pediatrics</subject><subject>Somalia - ethnology</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkU2L1TAYhYMoznX0B7iRgBs31STNV5cyo87IDC7UdUjTN3cy9CY1aRnu2j9uSi8ogkgCeSHPOZzkIPSSkreUEPWuUCK4aAjpGkpb0ahHaEeFahsmpXiMdoRy2uhOiDP0rJR7UkEtxFN0RjslFOVqh35ehf0dDtGFAaIDnDyecvJpiQPuQ5pDDIMtgAfwwYWKHOs4g5thqCoc4aFPOeLiMkAMcY_7MaUBlynNZQXmO8Bf08GOwUY8pWkZ7RxSXK9uQ4xQ0myfoyfejgVenM5z9P3jh28XV83Nl0_XF-9vGsdZfaJ1mknde9nJtm2dlMQTBVp7xlRrSdv3THFCO1LHllNZyaHvNPeybu-H9hy92XzrC38sUGZzCMXBONoIaSmGVh_eaaV0RV__hd6nJceazlDOZF2Md5WiG-VyKiWDN1MOB5uPhhKzNmS2hkz9eLM2ZFTVvDo5L_0Bht-KUyUVUBvwEEY4_t_RfL6-vSRUrnHYpixVFPeQ_wj9zzy_AJ9jrNQ</recordid><startdate>200912</startdate><enddate>200912</enddate><creator>Sarafoglou, K.</creator><creator>Bentler, K.</creator><creator>Gaviglio, A.</creator><creator>Redlinger-Grosse, K.</creator><creator>Anderson, C.</creator><creator>McCann, M.</creator><creator>Bloom, B.</creator><creator>Babovic-Vuksanovic, D.</creator><creator>Gavrilov, D.</creator><creator>Berry, S. A.</creator><general>Springer Netherlands</general><general>Blackwell Publishing Ltd</general><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>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>200912</creationdate><title>High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota</title><author>Sarafoglou, K. ; Bentler, K. ; Gaviglio, A. ; Redlinger-Grosse, K. ; Anderson, C. ; McCann, M. ; Bloom, B. ; Babovic-Vuksanovic, D. ; Gavrilov, D. ; Berry, S. A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4209-ac8268bf696333c660f07e88f2273a03bb274019003b3416bf6db984f64f6ffd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Biochemistry</topic><topic>Biotinidase - genetics</topic><topic>Biotinidase Deficiency - enzymology</topic><topic>Biotinidase Deficiency - epidemiology</topic><topic>Biotinidase Deficiency - genetics</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Homozygote</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infant, Newborn</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Minnesota - epidemiology</topic><topic>Mutation</topic><topic>Neonatal Screening</topic><topic>Online Report</topic><topic>Pediatrics</topic><topic>Somalia - ethnology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sarafoglou, K.</creatorcontrib><creatorcontrib>Bentler, K.</creatorcontrib><creatorcontrib>Gaviglio, A.</creatorcontrib><creatorcontrib>Redlinger-Grosse, K.</creatorcontrib><creatorcontrib>Anderson, C.</creatorcontrib><creatorcontrib>McCann, M.</creatorcontrib><creatorcontrib>Bloom, B.</creatorcontrib><creatorcontrib>Babovic-Vuksanovic, D.</creatorcontrib><creatorcontrib>Gavrilov, D.</creatorcontrib><creatorcontrib>Berry, S. A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</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>Sarafoglou, K.</au><au>Bentler, K.</au><au>Gaviglio, A.</au><au>Redlinger-Grosse, K.</au><au>Anderson, C.</au><au>McCann, M.</au><au>Bloom, B.</au><au>Babovic-Vuksanovic, D.</au><au>Gavrilov, D.</au><au>Berry, S. A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2009-12</date><risdate>2009</risdate><volume>32</volume><issue>Suppl 1</issue><spage>169</spage><epage>173</epage><pages>169-173</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Summary
Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorimetric system during the period of this study by MN NBS. Five cases of profound BTD (0.1 to <0.6 nmol/min per ml) and 26 cases of partial BTD (0.9 to 2.3 nmol/min per ml) were later confirmed through measurement of serum biotinidase activity. The incidence of combined partial and profound BTD of 1/8540 and that of profound BTD of 1/52 945 in Minnesota are unusually high in comparison with the reported worldwide numbers of 1/61 067 for combined BTD and 1/137 401 for profound BTD. Four out of the 5 cases of profound BTD ascertained in the MN NBS cohort were of Somali ethnic background, and the remaining case was of Asian (Pakistani/Indian) ethnic background. All four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation. The three compound heterozygotes all have a novel mutation (P142T) and two of them have another change (Y428Y) that has never been described. Within the last two decades, Minnesota has become home to an estimated 40 000 Somali immigrants and their children (<1% of the total Minnesota population). New population demographics prompt careful analysis of case cohorts to identify specific groups at risk for rare inborn errors of metabolism.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>19757147</pmid><doi>10.1007/s10545-009-1135-7</doi><tpages>5</tpages></addata></record> |
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| subjects | Biochemistry Biotinidase - genetics Biotinidase Deficiency - enzymology Biotinidase Deficiency - epidemiology Biotinidase Deficiency - genetics Female Genetic Carrier Screening Homozygote Human Genetics Humans Incidence Infant, Newborn Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Minnesota - epidemiology Mutation Neonatal Screening Online Report Pediatrics Somalia - ethnology |
| title | High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota |
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