Population Screening
To the Editor: In their review article, Khoury et al. (Jan. 2 issue) 1 suggest that homocystinuria should be screened for by Guthrie bacterial inhibition assay and treated with vitamin B 12 and methionine restriction. Homocystinuria occurs in several conditions, including cystathionine β-synthase de...
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| Veröffentlicht in: | The New England journal of medicine 2003-04, Vol.348 (16), p.1604-1605 |
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| container_title | The New England journal of medicine |
| container_volume | 348 |
| creator | Stabler, Sally P Mudd, S Harvey |
| description | To the Editor:
In their review article, Khoury et al. (Jan. 2 issue)
1
suggest that homocystinuria should be screened for by Guthrie bacterial inhibition assay and treated with vitamin B
12
and methionine restriction. Homocystinuria occurs in several conditions, including cystathionine β-synthase deficiency and genetic disorders of homocysteine remethylation.
2
,
3
Plasma total homocysteine levels may also be elevated because of folate deficiency or vitamin B
12
deficiency.
2
The Guthrie test, designed to detect hypermethioninemia, fails to detect abnormalities of homocysteine remethylation. Hypermethioninemia occurs not only in cystathionine β-synthase deficiency but also in a variety of other conditions.
2
,
4
,
5
Cystathionine . . . |
| doi_str_mv | 10.1056/NEJM200304173481619 |
| format | Article |
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In their review article, Khoury et al. (Jan. 2 issue)
1
suggest that homocystinuria should be screened for by Guthrie bacterial inhibition assay and treated with vitamin B
12
and methionine restriction. Homocystinuria occurs in several conditions, including cystathionine β-synthase deficiency and genetic disorders of homocysteine remethylation.
2
,
3
Plasma total homocysteine levels may also be elevated because of folate deficiency or vitamin B
12
deficiency.
2
The Guthrie test, designed to detect hypermethioninemia, fails to detect abnormalities of homocysteine remethylation. Hypermethioninemia occurs not only in cystathionine β-synthase deficiency but also in a variety of other conditions.
2
,
4
,
5
Cystathionine . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM200304173481619</identifier><identifier>PMID: 12700387</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Amino Acid Metabolism, Inborn Errors - diagnosis ; Diagnosis, Differential ; Genetic Testing ; Homocystinuria - diagnosis ; Homocystinuria - genetics ; Homocystinuria - therapy ; Humans ; Infant, Newborn ; Methionine - administration & dosage ; Methionine - blood ; Neonatal Screening ; Vitamin B 6 - therapeutic use</subject><ispartof>The New England journal of medicine, 2003-04, Vol.348 (16), p.1604-1605</ispartof><rights>Copyright © 2003 Massachusetts Medical Society. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c545t-4d987b417ebda58ec20a15c94b0cc56ee811c3b96d6609e7412d2701799965263</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJM200304173481619$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJM200304173481619$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,776,780,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12700387$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Stabler, Sally P</creatorcontrib><creatorcontrib>Mudd, S Harvey</creatorcontrib><title>Population Screening</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>To the Editor:
In their review article, Khoury et al. (Jan. 2 issue)
1
suggest that homocystinuria should be screened for by Guthrie bacterial inhibition assay and treated with vitamin B
12
and methionine restriction. Homocystinuria occurs in several conditions, including cystathionine β-synthase deficiency and genetic disorders of homocysteine remethylation.
2
,
3
Plasma total homocysteine levels may also be elevated because of folate deficiency or vitamin B
12
deficiency.
2
The Guthrie test, designed to detect hypermethioninemia, fails to detect abnormalities of homocysteine remethylation. Hypermethioninemia occurs not only in cystathionine β-synthase deficiency but also in a variety of other conditions.
2
,
4
,
5
Cystathionine . . .</description><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Genetic Testing</subject><subject>Homocystinuria - diagnosis</subject><subject>Homocystinuria - genetics</subject><subject>Homocystinuria - therapy</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Methionine - administration & dosage</subject><subject>Methionine - blood</subject><subject>Neonatal Screening</subject><subject>Vitamin B 6 - therapeutic use</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkEtLw0AUhQdRbK3u3Aniyo1E751nZimlvqgPUNdDMrmVlDxqJln03zvSghsR7-Zuvu8cOIydIFwiKH31NHt45AACJBohU9Rod9gYlRCJlKB32RiAp4k0VozYQQhLiIfS7rMRchPF1IzZ8Uu7GqqsL9vm7NV3RE3ZfByyvUVWBTra_gl7v5m9Te-S-fPt_fR6nnglVZ_IwqYmj-2UF5lKyXPIUHkrc_BeaaIU0Yvc6kJrsGQk8iIWo7HWasW1mLDzTe6qaz8HCr2ry-CpqrKG2iE4IzgX-l8gWoURnjCxAX3XhtDRwq26ss66tUNw36u5X1aL1uk2fshrKn6c7UwRuNgAdR1cQ8v6z7gvf45wbg</recordid><startdate>20030417</startdate><enddate>20030417</enddate><creator>Stabler, Sally P</creator><creator>Mudd, S Harvey</creator><general>Massachusetts Medical Society</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>7X8</scope></search><sort><creationdate>20030417</creationdate><title>Population Screening</title><author>Stabler, Sally P ; Mudd, S Harvey</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c545t-4d987b417ebda58ec20a15c94b0cc56ee811c3b96d6609e7412d2701799965263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Amino Acid Metabolism, Inborn Errors - diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Genetic Testing</topic><topic>Homocystinuria - diagnosis</topic><topic>Homocystinuria - genetics</topic><topic>Homocystinuria - therapy</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Methionine - administration & dosage</topic><topic>Methionine - blood</topic><topic>Neonatal Screening</topic><topic>Vitamin B 6 - therapeutic use</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Stabler, Sally P</creatorcontrib><creatorcontrib>Mudd, S Harvey</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>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Stabler, Sally P</au><au>Mudd, S Harvey</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Population Screening</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>2003-04-17</date><risdate>2003</risdate><volume>348</volume><issue>16</issue><spage>1604</spage><epage>1605</epage><pages>1604-1605</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><abstract>To the Editor:
In their review article, Khoury et al. (Jan. 2 issue)
1
suggest that homocystinuria should be screened for by Guthrie bacterial inhibition assay and treated with vitamin B
12
and methionine restriction. Homocystinuria occurs in several conditions, including cystathionine β-synthase deficiency and genetic disorders of homocysteine remethylation.
2
,
3
Plasma total homocysteine levels may also be elevated because of folate deficiency or vitamin B
12
deficiency.
2
The Guthrie test, designed to detect hypermethioninemia, fails to detect abnormalities of homocysteine remethylation. Hypermethioninemia occurs not only in cystathionine β-synthase deficiency but also in a variety of other conditions.
2
,
4
,
5
Cystathionine . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>12700387</pmid><doi>10.1056/NEJM200304173481619</doi><tpages>2</tpages></addata></record> |
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| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 2003-04, Vol.348 (16), p.1604-1605 |
| issn | 0028-4793 1533-4406 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73223626 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; New England Journal of Medicine |
| subjects | Amino Acid Metabolism, Inborn Errors - diagnosis Diagnosis, Differential Genetic Testing Homocystinuria - diagnosis Homocystinuria - genetics Homocystinuria - therapy Humans Infant, Newborn Methionine - administration & dosage Methionine - blood Neonatal Screening Vitamin B 6 - therapeutic use |
| title | Population Screening |
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