Prospective Study of Maple-Syrup-Urine Disease for the First Four Days of Life
Maple-syrup-urine disease, also known as branched-chain ketoaciduria, results from a primary defect in oxidative decarboxylation of the ketoacids derived from the branched-chain amino acids leucine, isoleucine, and valine. 1 Neonates with the most common form of this autosomal recessive disorder (cl...
Gespeichert in:
| Veröffentlicht in: | The New England journal of medicine 1982-12, Vol.307 (24), p.1492-1495 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext bestellen |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1495 |
|---|---|
| container_issue | 24 |
| container_start_page | 1492 |
| container_title | The New England journal of medicine |
| container_volume | 307 |
| creator | DiGeorge, Angelo M Rezvani, Iraj Garibaldi, Luigi R Schwartz, Michael |
| description | Maple-syrup-urine disease, also known as branched-chain ketoaciduria, results from a primary defect in oxidative decarboxylation of the ketoacids derived from the branched-chain amino acids leucine, isoleucine, and valine.
1
Neonates with the most common form of this autosomal recessive disorder (classic maple-syrup-urine disease) appear normal at birth but usually become symptomatic by four or five days of age, with lethargy, poor appetite, vomiting, and alternating periods of hypertonicity and flaccidity. Progressive neurologic deterioration, seizures, coma, and acidosis ensue; death may occur within 10 to 14 days if the condition is untreated.
2
Delay in diagnosis or improper treatment results in mental retardation . . . |
| doi_str_mv | 10.1056/NEJM198212093072405 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_80190096</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4319301591</sourcerecordid><originalsourceid>FETCH-LOGICAL-c279t-f4919c08803caf0e9fdc449ea996aee731edd4fed012cf627171fff5a58d4d5f2</originalsourceid><addsrcrecordid>eNp9kFtLwzAUx4Moc14-gQgBwRepnqRpmzzKLl7YpjD3XGJ7gh3tWpNW6Lc3Y8MHEc_Lefhf-PMj5ILBLYMovltMnudMSc44qBASLiA6IEMWhWEgBMSHZAjAZSASFR6TE-fW4I8JNSCDhAkhWTQki1dbuwaztvhCumy7vKe1oXPdlBgse9s1wcoWG6TjwqF2SE1tafuBdFpY19Jp3Vk61r3bhmaFwTNyZHTp8Hz_T8lqOnkbPQazl4en0f0syHii2sAIxVQGUkKYaQOoTJ4JoVArFWvEJGSY58JgDoxnJuYJS5gxJtKRzEUeGX5Krne9ja0_O3RtWhUuw7LUG6w7l0pgCkDF3nj1y7j2mzd-W8pkImTkyXHvCneuzNNwFk3a2KLStk8ZpFvW6R-sfepy3929V5j_ZPZwvX6z06vKpRtcV_-2fQMVQYSu</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1874859302</pqid></control><display><type>article</type><title>Prospective Study of Maple-Syrup-Urine Disease for the First Four Days of Life</title><source>MEDLINE</source><creator>DiGeorge, Angelo M ; Rezvani, Iraj ; Garibaldi, Luigi R ; Schwartz, Michael</creator><creatorcontrib>DiGeorge, Angelo M ; Rezvani, Iraj ; Garibaldi, Luigi R ; Schwartz, Michael</creatorcontrib><description>Maple-syrup-urine disease, also known as branched-chain ketoaciduria, results from a primary defect in oxidative decarboxylation of the ketoacids derived from the branched-chain amino acids leucine, isoleucine, and valine.
1
Neonates with the most common form of this autosomal recessive disorder (classic maple-syrup-urine disease) appear normal at birth but usually become symptomatic by four or five days of age, with lethargy, poor appetite, vomiting, and alternating periods of hypertonicity and flaccidity. Progressive neurologic deterioration, seizures, coma, and acidosis ensue; death may occur within 10 to 14 days if the condition is untreated.
2
Delay in diagnosis or improper treatment results in mental retardation . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM198212093072405</identifier><identifier>PMID: 7144815</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Age ; Age Factors ; Amino acids ; Amino Acids, Branched-Chain - blood ; Case reports ; Dehydrogenases ; Female ; Fetal Blood - analysis ; Fibroblasts ; Food, Formulated ; Humans ; Infant Food ; Infant, Newborn ; Isoleucine - blood ; Leucine - blood ; Male ; Maple Syrup Urine Disease - blood ; Maple Syrup Urine Disease - diagnosis ; Maple Syrup Urine Disease - diet therapy ; Medical screening ; Metabolism ; Newborn babies ; Patients ; Urine ; Valine - blood</subject><ispartof>The New England journal of medicine, 1982-12, Vol.307 (24), p.1492-1495</ispartof><rights>Copyright Massachusetts Medical Society Dec 9, 1982</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c279t-f4919c08803caf0e9fdc449ea996aee731edd4fed012cf627171fff5a58d4d5f2</citedby><cites>FETCH-LOGICAL-c279t-f4919c08803caf0e9fdc449ea996aee731edd4fed012cf627171fff5a58d4d5f2</cites></display><links><openurl>$$Topenurl_article</openurl><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>776</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7144815$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DiGeorge, Angelo M</creatorcontrib><creatorcontrib>Rezvani, Iraj</creatorcontrib><creatorcontrib>Garibaldi, Luigi R</creatorcontrib><creatorcontrib>Schwartz, Michael</creatorcontrib><title>Prospective Study of Maple-Syrup-Urine Disease for the First Four Days of Life</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>Maple-syrup-urine disease, also known as branched-chain ketoaciduria, results from a primary defect in oxidative decarboxylation of the ketoacids derived from the branched-chain amino acids leucine, isoleucine, and valine.
1
Neonates with the most common form of this autosomal recessive disorder (classic maple-syrup-urine disease) appear normal at birth but usually become symptomatic by four or five days of age, with lethargy, poor appetite, vomiting, and alternating periods of hypertonicity and flaccidity. Progressive neurologic deterioration, seizures, coma, and acidosis ensue; death may occur within 10 to 14 days if the condition is untreated.
2
Delay in diagnosis or improper treatment results in mental retardation . . .</description><subject>Age</subject><subject>Age Factors</subject><subject>Amino acids</subject><subject>Amino Acids, Branched-Chain - blood</subject><subject>Case reports</subject><subject>Dehydrogenases</subject><subject>Female</subject><subject>Fetal Blood - analysis</subject><subject>Fibroblasts</subject><subject>Food, Formulated</subject><subject>Humans</subject><subject>Infant Food</subject><subject>Infant, Newborn</subject><subject>Isoleucine - blood</subject><subject>Leucine - blood</subject><subject>Male</subject><subject>Maple Syrup Urine Disease - blood</subject><subject>Maple Syrup Urine Disease - diagnosis</subject><subject>Maple Syrup Urine Disease - diet therapy</subject><subject>Medical screening</subject><subject>Metabolism</subject><subject>Newborn babies</subject><subject>Patients</subject><subject>Urine</subject><subject>Valine - blood</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>false</fulltext><rsrctype>article</rsrctype><creationdate>1982</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9kFtLwzAUx4Moc14-gQgBwRepnqRpmzzKLl7YpjD3XGJ7gh3tWpNW6Lc3Y8MHEc_Lefhf-PMj5ILBLYMovltMnudMSc44qBASLiA6IEMWhWEgBMSHZAjAZSASFR6TE-fW4I8JNSCDhAkhWTQki1dbuwaztvhCumy7vKe1oXPdlBgse9s1wcoWG6TjwqF2SE1tafuBdFpY19Jp3Vk61r3bhmaFwTNyZHTp8Hz_T8lqOnkbPQazl4en0f0syHii2sAIxVQGUkKYaQOoTJ4JoVArFWvEJGSY58JgDoxnJuYJS5gxJtKRzEUeGX5Krne9ja0_O3RtWhUuw7LUG6w7l0pgCkDF3nj1y7j2mzd-W8pkImTkyXHvCneuzNNwFk3a2KLStk8ZpFvW6R-sfepy3929V5j_ZPZwvX6z06vKpRtcV_-2fQMVQYSu</recordid><startdate>19821209</startdate><enddate>19821209</enddate><creator>DiGeorge, Angelo M</creator><creator>Rezvani, Iraj</creator><creator>Garibaldi, Luigi R</creator><creator>Schwartz, Michael</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>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>19821209</creationdate><title>Prospective Study of Maple-Syrup-Urine Disease for the First Four Days of Life</title><author>DiGeorge, Angelo M ; Rezvani, Iraj ; Garibaldi, Luigi R ; Schwartz, Michael</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c279t-f4919c08803caf0e9fdc449ea996aee731edd4fed012cf627171fff5a58d4d5f2</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1982</creationdate><topic>Age</topic><topic>Age Factors</topic><topic>Amino acids</topic><topic>Amino Acids, Branched-Chain - blood</topic><topic>Case reports</topic><topic>Dehydrogenases</topic><topic>Female</topic><topic>Fetal Blood - analysis</topic><topic>Fibroblasts</topic><topic>Food, Formulated</topic><topic>Humans</topic><topic>Infant Food</topic><topic>Infant, Newborn</topic><topic>Isoleucine - blood</topic><topic>Leucine - blood</topic><topic>Male</topic><topic>Maple Syrup Urine Disease - blood</topic><topic>Maple Syrup Urine Disease - diagnosis</topic><topic>Maple Syrup Urine Disease - diet therapy</topic><topic>Medical screening</topic><topic>Metabolism</topic><topic>Newborn babies</topic><topic>Patients</topic><topic>Urine</topic><topic>Valine - blood</topic><toplevel>peer_reviewed</toplevel><creatorcontrib>DiGeorge, Angelo M</creatorcontrib><creatorcontrib>Rezvani, Iraj</creatorcontrib><creatorcontrib>Garibaldi, Luigi R</creatorcontrib><creatorcontrib>Schwartz, Michael</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Pharma and Biotech Premium PRO</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>New England Journal of Medicine</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</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>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>no_fulltext</fulltext></delivery><addata><au>DiGeorge, Angelo M</au><au>Rezvani, Iraj</au><au>Garibaldi, Luigi R</au><au>Schwartz, Michael</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prospective Study of Maple-Syrup-Urine Disease for the First Four Days of Life</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>1982-12-09</date><risdate>1982</risdate><volume>307</volume><issue>24</issue><spage>1492</spage><epage>1495</epage><pages>1492-1495</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><abstract>Maple-syrup-urine disease, also known as branched-chain ketoaciduria, results from a primary defect in oxidative decarboxylation of the ketoacids derived from the branched-chain amino acids leucine, isoleucine, and valine.
1
Neonates with the most common form of this autosomal recessive disorder (classic maple-syrup-urine disease) appear normal at birth but usually become symptomatic by four or five days of age, with lethargy, poor appetite, vomiting, and alternating periods of hypertonicity and flaccidity. Progressive neurologic deterioration, seizures, coma, and acidosis ensue; death may occur within 10 to 14 days if the condition is untreated.
2
Delay in diagnosis or improper treatment results in mental retardation . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>7144815</pmid><doi>10.1056/NEJM198212093072405</doi><tpages>4</tpages></addata></record> |
| fulltext | no_fulltext |
| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 1982-12, Vol.307 (24), p.1492-1495 |
| issn | 0028-4793 1533-4406 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_80190096 |
| source | MEDLINE |
| subjects | Age Age Factors Amino acids Amino Acids, Branched-Chain - blood Case reports Dehydrogenases Female Fetal Blood - analysis Fibroblasts Food, Formulated Humans Infant Food Infant, Newborn Isoleucine - blood Leucine - blood Male Maple Syrup Urine Disease - blood Maple Syrup Urine Disease - diagnosis Maple Syrup Urine Disease - diet therapy Medical screening Metabolism Newborn babies Patients Urine Valine - blood |
| title | Prospective Study of Maple-Syrup-Urine Disease for the First Four Days of Life |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-01T22%3A52%3A16IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Prospective%20Study%20of%20Maple-Syrup-Urine%20Disease%20for%20the%20First%20Four%20Days%20of%20Life&rft.jtitle=The%20New%20England%20journal%20of%20medicine&rft.au=DiGeorge,%20Angelo%20M&rft.date=1982-12-09&rft.volume=307&rft.issue=24&rft.spage=1492&rft.epage=1495&rft.pages=1492-1495&rft.issn=0028-4793&rft.eissn=1533-4406&rft_id=info:doi/10.1056/NEJM198212093072405&rft_dat=%3Cproquest_cross%3E4319301591%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1874859302&rft_id=info:pmid/7144815&rfr_iscdi=true |