Citrullinaemia with Rapidly Fatal Neonatal Course
An infant with a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and ur...
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| Veröffentlicht in: | Archives of disease in childhood 1971-12, Vol.46 (250), p.847-851 |
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| container_issue | 250 |
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| container_title | Archives of disease in childhood |
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| creator | Van Der Zee, S. P. M. Trijbels, J. M. F. Monnens, L. A. H. Hommes, F. A. Schretlen, E. D. A. M. |
| description | An infant with a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and urine, with very high citrulline levels. This patient differs from other cases reported previously, both in her fulminant and fatal course in the neonatal period and in the greater biochemical disturbance. |
| doi_str_mv | 10.1136/adc.46.250.847 |
| format | Article |
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P. M. ; Trijbels, J. M. F. ; Monnens, L. A. H. ; Hommes, F. A. ; Schretlen, E. D. A. M.</creator><creatorcontrib>Van Der Zee, S. P. M. ; Trijbels, J. M. F. ; Monnens, L. A. H. ; Hommes, F. A. ; Schretlen, E. D. A. M.</creatorcontrib><description>An infant with a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and urine, with very high citrulline levels. This patient differs from other cases reported previously, both in her fulminant and fatal course in the neonatal period and in the greater biochemical disturbance.</description><identifier>ISSN: 0003-9888</identifier><identifier>EISSN: 1468-2044</identifier><identifier>DOI: 10.1136/adc.46.250.847</identifier><identifier>PMID: 5129187</identifier><identifier>CODEN: ADCHAK</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><subject>Amino Acid Metabolism, Inborn Errors - blood ; Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid ; Amino Acid Metabolism, Inborn Errors - enzymology ; Amino Acid Metabolism, Inborn Errors - urine ; Amino acids ; Amino Acids - blood ; Amino Acids - cerebrospinal fluid ; Amino Acids - urine ; Brain - enzymology ; Citrulline - blood ; Citrulline - cerebrospinal fluid ; Citrulline - urine ; Electrophoresis ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases - blood ; Ligases ; Liver - enzymology ; Respiratory Insufficiency - etiology ; Seizures - etiology</subject><ispartof>Archives of disease in childhood, 1971-12, Vol.46 (250), p.847-851</ispartof><rights>Copyright BMJ Publishing Group LTD Dec 1971</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b485t-c022500a513b766cef58780f5f9141e1ab01fa9ebd854b5a1dfc519776e00c353</citedby><cites>FETCH-LOGICAL-b485t-c022500a513b766cef58780f5f9141e1ab01fa9ebd854b5a1dfc519776e00c353</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1647944/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1647944/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/5129187$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Van Der Zee, S. P. M.</creatorcontrib><creatorcontrib>Trijbels, J. M. F.</creatorcontrib><creatorcontrib>Monnens, L. A. H.</creatorcontrib><creatorcontrib>Hommes, F. A.</creatorcontrib><creatorcontrib>Schretlen, E. D. A. M.</creatorcontrib><title>Citrullinaemia with Rapidly Fatal Neonatal Course</title><title>Archives of disease in childhood</title><addtitle>Arch Dis Child</addtitle><description>An infant with a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and urine, with very high citrulline levels. This patient differs from other cases reported previously, both in her fulminant and fatal course in the neonatal period and in the greater biochemical disturbance.</description><subject>Amino Acid Metabolism, Inborn Errors - blood</subject><subject>Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid</subject><subject>Amino Acid Metabolism, Inborn Errors - enzymology</subject><subject>Amino Acid Metabolism, Inborn Errors - urine</subject><subject>Amino acids</subject><subject>Amino Acids - blood</subject><subject>Amino Acids - cerebrospinal fluid</subject><subject>Amino Acids - urine</subject><subject>Brain - enzymology</subject><subject>Citrulline - blood</subject><subject>Citrulline - cerebrospinal fluid</subject><subject>Citrulline - urine</subject><subject>Electrophoresis</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Infant, Newborn, Diseases - blood</subject><subject>Ligases</subject><subject>Liver - enzymology</subject><subject>Respiratory Insufficiency - etiology</subject><subject>Seizures - etiology</subject><issn>0003-9888</issn><issn>1468-2044</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1971</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkUuLFDEUhYMoY8_o1p3QIAizqPLeqjw3wlA4jtCMKL52l1RVyklbjzapUuffG-2mUTeuEjhfTu65h7FHCDliKZ_Ztsm5zAsBuebqDlshlzorgPO7bAUAZWa01vfZaYxbACy0Lk_YicDCoFYrhpWfw9L3frRu8Hb93c8367d259v-dn1pZ9uvr900_r5U0xKie8DudbaP7uHhPGPvL1-8q66yzeuXr6qLTVZzLeasgSLNBFZgWSspG9cJrTR0ojPI0aGtATtrXN1qwWthse0agUYp6QCaUpRn7Pned7fUg2sbN87B9rQLfrDhlibr6W9l9Df0efpGKLkynCeDpweDMH1dXJxp8LFxfW9HNy2RNBZYGmkS-OQfcJuSjikcoZJGCUABicr3VBOmGIPrjqMg0K8qKFVBXFKKTamK9ODxnwGO-GH3Sc_2uo-z-3GUbfhCUpVK0PWHinAj5JurTx9JJv58z9fD9n9__wSlIp_Y</recordid><startdate>19711201</startdate><enddate>19711201</enddate><creator>Van Der Zee, S. 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P. M.</au><au>Trijbels, J. M. F.</au><au>Monnens, L. A. H.</au><au>Hommes, F. A.</au><au>Schretlen, E. D. A. M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Citrullinaemia with Rapidly Fatal Neonatal Course</atitle><jtitle>Archives of disease in childhood</jtitle><addtitle>Arch Dis Child</addtitle><date>1971-12-01</date><risdate>1971</risdate><volume>46</volume><issue>250</issue><spage>847</spage><epage>851</epage><pages>847-851</pages><issn>0003-9888</issn><eissn>1468-2044</eissn><coden>ADCHAK</coden><abstract>An infant with a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and urine, with very high citrulline levels. 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| ispartof | Archives of disease in childhood, 1971-12, Vol.46 (250), p.847-851 |
| issn | 0003-9888 1468-2044 |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Amino Acid Metabolism, Inborn Errors - blood Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - urine Amino acids Amino Acids - blood Amino Acids - cerebrospinal fluid Amino Acids - urine Brain - enzymology Citrulline - blood Citrulline - cerebrospinal fluid Citrulline - urine Electrophoresis Female Humans Infant, Newborn Infant, Newborn, Diseases - blood Ligases Liver - enzymology Respiratory Insufficiency - etiology Seizures - etiology |
| title | Citrullinaemia with Rapidly Fatal Neonatal Course |
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