Ornithine Transcarbamylase Deficiency — A Cause of Bizarre Behavior in a Man
THE most commonly reported deficiency of the urea-cycle enzymes is that of ornithine transcarbamylase (E.C.2.1.3.3). 1 It is inherited as an X-linked defect. 2 , 3 In the usual forms of this disease, ornithine transcarbamylase activity in the liver varies widely in heterozygous females but is usuall...
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| Veröffentlicht in: | The New England journal of medicine 1986-09, Vol.315 (12), p.744-747 |
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| creator | DiMagno, Eugene P Lowe, John E Snodgrass, Philip J Jones, James D |
| description | THE most commonly reported deficiency of the urea-cycle enzymes is that of ornithine transcarbamylase (E.C.2.1.3.3).
1
It is inherited as an X-linked defect.
2
,
3
In the usual forms of this disease, ornithine transcarbamylase activity in the liver varies widely in heterozygous females but is usually undetectable in males. Consequently, the disease occurs later in females and its clinical manifestations are less severe, whereas affected males usually die before they are one year old. However, a few boys have been described who had 5 to 30 percent of normal enzyme activity and later onset of symptoms.
1
,
4
We report the case of an unusual, . . . |
| doi_str_mv | 10.1056/NEJM198609183151207 |
| format | Article |
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1
It is inherited as an X-linked defect.
2
,
3
In the usual forms of this disease, ornithine transcarbamylase activity in the liver varies widely in heterozygous females but is usually undetectable in males. Consequently, the disease occurs later in females and its clinical manifestations are less severe, whereas affected males usually die before they are one year old. However, a few boys have been described who had 5 to 30 percent of normal enzyme activity and later onset of symptoms.
1
,
4
We report the case of an unusual, . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM198609183151207</identifier><identifier>PMID: 3748082</identifier><identifier>CODEN: NEJMAG</identifier><language>eng</language><publisher>Boston, MA: Massachusetts Medical Society</publisher><subject>Adult ; Amino Acid Metabolism, Inborn Errors - complications ; Amino Acid Metabolism, Inborn Errors - diagnosis ; Amino acids ; Aminoacid disorders ; Ammonia ; Ammonia - blood ; Biological and medical sciences ; Biopsy ; Case reports ; Dietary Proteins - administration & dosage ; Enzymes ; Errors of metabolism ; Families & family life ; Hepatitis ; Hospitals ; Humans ; Liver - enzymology ; Male ; Males ; Meals ; Medical sciences ; Mental Disorders - etiology ; Metabolic diseases ; Ornithine ; Ornithine Carbamoyltransferase Deficiency Disease ; Phosphatase ; Proteins ; Thyroid gland ; Urine</subject><ispartof>The New England journal of medicine, 1986-09, Vol.315 (12), p.744-747</ispartof><rights>1987 INIST-CNRS</rights><rights>Copyright Massachusetts Medical Society Sep 18, 1986</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c393t-86089fe20a190e63a4a25dec0fe35854d4d740ceb264a921df8693e92ed698743</citedby><cites>FETCH-LOGICAL-c393t-86089fe20a190e63a4a25dec0fe35854d4d740ceb264a921df8693e92ed698743</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/1879377311?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27922,27923,64383,64385,64387,72239</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8171645$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3748082$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DiMagno, Eugene P</creatorcontrib><creatorcontrib>Lowe, John E</creatorcontrib><creatorcontrib>Snodgrass, Philip J</creatorcontrib><creatorcontrib>Jones, James D</creatorcontrib><title>Ornithine Transcarbamylase Deficiency — A Cause of Bizarre Behavior in a Man</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>THE most commonly reported deficiency of the urea-cycle enzymes is that of ornithine transcarbamylase (E.C.2.1.3.3).
1
It is inherited as an X-linked defect.
2
,
3
In the usual forms of this disease, ornithine transcarbamylase activity in the liver varies widely in heterozygous females but is usually undetectable in males. Consequently, the disease occurs later in females and its clinical manifestations are less severe, whereas affected males usually die before they are one year old. However, a few boys have been described who had 5 to 30 percent of normal enzyme activity and later onset of symptoms.
1
,
4
We report the case of an unusual, . . .</description><subject>Adult</subject><subject>Amino Acid Metabolism, Inborn Errors - complications</subject><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Amino acids</subject><subject>Aminoacid disorders</subject><subject>Ammonia</subject><subject>Ammonia - blood</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Case reports</subject><subject>Dietary Proteins - administration & dosage</subject><subject>Enzymes</subject><subject>Errors of metabolism</subject><subject>Families & family life</subject><subject>Hepatitis</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Liver - enzymology</subject><subject>Male</subject><subject>Males</subject><subject>Meals</subject><subject>Medical sciences</subject><subject>Mental Disorders - etiology</subject><subject>Metabolic diseases</subject><subject>Ornithine</subject><subject>Ornithine Carbamoyltransferase Deficiency Disease</subject><subject>Phosphatase</subject><subject>Proteins</subject><subject>Thyroid gland</subject><subject>Urine</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9kEtLHEEQgJsQMRuTXxACDUouMkm_ph9H3Zho8HEx56G2pwZ7menR7p3A5uSP8Bf6S-ywiweR1KWg6qsHHyGfOPvKWa2_XZ78uuDOaua4lbzmgpk3ZMZrKSulmH5LZowJWynj5DvyPuclK8GV2yW70ijLrJiRy6sUw-omRKTXCWL2kBYwrHvISL9jF3zA6Nf08f6BHtE5TKU8dvQ4_IWUkB7jDfwJY6IhUqAXED-QnQ76jB-3eY_8_nFyPT-tzq9-ns2PzisvnVxV5WfrOhQMuGOoJSgQdYuedShrW6tWtUYxjwuhFTjB285qJ9EJbLWzRsk98mWz9zaNdxPmVTOE7LHvIeI45cYYJrhkuoD7L8DlOKVYfmu4LWKMkZwXSm4on8acE3bNbQoDpHXDWfPPdfOK6zL1ebt7WgzYPs9s5Zb-wbYPxWvfFb8-5GfMcsO1qgt2uMGGITcRl8N_jz4BhjuQtw</recordid><startdate>19860918</startdate><enddate>19860918</enddate><creator>DiMagno, Eugene P</creator><creator>Lowe, John E</creator><creator>Snodgrass, Philip J</creator><creator>Jones, James D</creator><general>Massachusetts Medical Society</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>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>19860918</creationdate><title>Ornithine Transcarbamylase Deficiency — A Cause of Bizarre Behavior in a Man</title><author>DiMagno, Eugene P ; Lowe, John E ; Snodgrass, Philip J ; Jones, James D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c393t-86089fe20a190e63a4a25dec0fe35854d4d740ceb264a921df8693e92ed698743</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1986</creationdate><topic>Adult</topic><topic>Amino Acid Metabolism, Inborn Errors - complications</topic><topic>Amino Acid Metabolism, Inborn Errors - diagnosis</topic><topic>Amino acids</topic><topic>Aminoacid disorders</topic><topic>Ammonia</topic><topic>Ammonia - blood</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Case reports</topic><topic>Dietary Proteins - administration & dosage</topic><topic>Enzymes</topic><topic>Errors of metabolism</topic><topic>Families & family life</topic><topic>Hepatitis</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Liver - enzymology</topic><topic>Male</topic><topic>Males</topic><topic>Meals</topic><topic>Medical sciences</topic><topic>Mental Disorders - etiology</topic><topic>Metabolic diseases</topic><topic>Ornithine</topic><topic>Ornithine Carbamoyltransferase Deficiency Disease</topic><topic>Phosphatase</topic><topic>Proteins</topic><topic>Thyroid gland</topic><topic>Urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DiMagno, Eugene P</creatorcontrib><creatorcontrib>Lowe, John E</creatorcontrib><creatorcontrib>Snodgrass, Philip J</creatorcontrib><creatorcontrib>Jones, James D</creatorcontrib><collection>Pascal-Francis</collection><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>Psychology Database</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>fulltext</fulltext></delivery><addata><au>DiMagno, Eugene P</au><au>Lowe, John E</au><au>Snodgrass, Philip J</au><au>Jones, James D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ornithine Transcarbamylase Deficiency — A Cause of Bizarre Behavior in a Man</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>1986-09-18</date><risdate>1986</risdate><volume>315</volume><issue>12</issue><spage>744</spage><epage>747</epage><pages>744-747</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><coden>NEJMAG</coden><abstract>THE most commonly reported deficiency of the urea-cycle enzymes is that of ornithine transcarbamylase (E.C.2.1.3.3).
1
It is inherited as an X-linked defect.
2
,
3
In the usual forms of this disease, ornithine transcarbamylase activity in the liver varies widely in heterozygous females but is usually undetectable in males. Consequently, the disease occurs later in females and its clinical manifestations are less severe, whereas affected males usually die before they are one year old. However, a few boys have been described who had 5 to 30 percent of normal enzyme activity and later onset of symptoms.
1
,
4
We report the case of an unusual, . . .</abstract><cop>Boston, MA</cop><pub>Massachusetts Medical Society</pub><pmid>3748082</pmid><doi>10.1056/NEJM198609183151207</doi><tpages>4</tpages></addata></record> |
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| ispartof | The New England journal of medicine, 1986-09, Vol.315 (12), p.744-747 |
| issn | 0028-4793 1533-4406 |
| language | eng |
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| subjects | Adult Amino Acid Metabolism, Inborn Errors - complications Amino Acid Metabolism, Inborn Errors - diagnosis Amino acids Aminoacid disorders Ammonia Ammonia - blood Biological and medical sciences Biopsy Case reports Dietary Proteins - administration & dosage Enzymes Errors of metabolism Families & family life Hepatitis Hospitals Humans Liver - enzymology Male Males Meals Medical sciences Mental Disorders - etiology Metabolic diseases Ornithine Ornithine Carbamoyltransferase Deficiency Disease Phosphatase Proteins Thyroid gland Urine |
| title | Ornithine Transcarbamylase Deficiency — A Cause of Bizarre Behavior in a Man |
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