Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency
A girl, ultimately diagnosed as having profound ornithine transcarbamylase (OTC) deficiency, presented as a neonate with feeding intolerance, irritability, and seizures without concurrent hyperammonemia. Developing normally until ten months of age, the girl subsequently experienced two episodes of h...
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| Veröffentlicht in: | Pediatric neurology 1986, Vol.2 (1), p.51-53 |
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| container_title | Pediatric neurology |
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| creator | Lacey, Daniel J. Duffner, Patricia K. Cohen, Michael E. Mosovich, Luis |
| description | A girl, ultimately diagnosed as having profound ornithine transcarbamylase (OTC) deficiency, presented as a neonate with feeding intolerance, irritability, and seizures without concurrent hyperammonemia. Developing normally until ten months of age, the girl subsequently experienced two episodes of hyperammonemia, which were associated with focal seizures and residual hemiparesis. She continued to have profound neurologic impairment and seizures and died at 26 months of age, despite appropriate dietary protein restriction, sodium benzoate, and arginine supplementation. Symptomatic OTC deficiency has not been previously reported unassociated with hyperammonemia. The recurrent cerebrovascular episodes are distinctly uncommon in patients with urea cycle enzymopathies. |
| doi_str_mv | 10.1016/0887-8994(86)90041-X |
| format | Article |
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Developing normally until ten months of age, the girl subsequently experienced two episodes of hyperammonemia, which were associated with focal seizures and residual hemiparesis. She continued to have profound neurologic impairment and seizures and died at 26 months of age, despite appropriate dietary protein restriction, sodium benzoate, and arginine supplementation. Symptomatic OTC deficiency has not been previously reported unassociated with hyperammonemia. The recurrent cerebrovascular episodes are distinctly uncommon in patients with urea cycle enzymopathies.</description><identifier>ISSN: 0887-8994</identifier><identifier>EISSN: 1873-5150</identifier><identifier>DOI: 10.1016/0887-8994(86)90041-X</identifier><identifier>PMID: 3508674</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Amino Acid Metabolism, Inborn Errors - diagnosis ; Amino Acid Metabolism, Inborn Errors - enzymology ; Ammonia - blood ; Brain Diseases, Metabolic - diagnosis ; Brain Diseases, Metabolic - enzymology ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Ornithine Carbamoyltransferase Deficiency Disease ; Tomography, X-Ray Computed</subject><ispartof>Pediatric neurology, 1986, Vol.2 (1), p.51-53</ispartof><rights>1985</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c272t-b5bb3c13bf97e15f63fb2513b4721b9d8c2c78849bb0710e5694a5c5ff2328823</citedby><cites>FETCH-LOGICAL-c272t-b5bb3c13bf97e15f63fb2513b4721b9d8c2c78849bb0710e5694a5c5ff2328823</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0887-8994(86)90041-X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3548,4022,27922,27923,27924,45994</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3508674$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lacey, Daniel J.</creatorcontrib><creatorcontrib>Duffner, Patricia K.</creatorcontrib><creatorcontrib>Cohen, Michael E.</creatorcontrib><creatorcontrib>Mosovich, Luis</creatorcontrib><title>Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency</title><title>Pediatric neurology</title><addtitle>Pediatr Neurol</addtitle><description>A girl, ultimately diagnosed as having profound ornithine transcarbamylase (OTC) deficiency, presented as a neonate with feeding intolerance, irritability, and seizures without concurrent hyperammonemia. Developing normally until ten months of age, the girl subsequently experienced two episodes of hyperammonemia, which were associated with focal seizures and residual hemiparesis. She continued to have profound neurologic impairment and seizures and died at 26 months of age, despite appropriate dietary protein restriction, sodium benzoate, and arginine supplementation. Symptomatic OTC deficiency has not been previously reported unassociated with hyperammonemia. The recurrent cerebrovascular episodes are distinctly uncommon in patients with urea cycle enzymopathies.</description><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Amino Acid Metabolism, Inborn Errors - enzymology</subject><subject>Ammonia - blood</subject><subject>Brain Diseases, Metabolic - diagnosis</subject><subject>Brain Diseases, Metabolic - enzymology</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Ornithine Carbamoyltransferase Deficiency Disease</subject><subject>Tomography, X-Ray Computed</subject><issn>0887-8994</issn><issn>1873-5150</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtLxTAQhYMoen38A4WsRBfVJE2adCOI-ALBjYIrQ5JONNKmmrTK_ff2PnDpamaYc84wH0KHlJxRQqtzopQsVF3zE1Wd1oRwWrxsoBlVsiwEFWQTzf4kO2g35w9CiKgZ30bbpSCqknyGXp_jmEfTYht69w5dcFNvYoNdG-Jy8GCGMUHGIWKD30Jq8U8Y3nGf4lRCBDwkE7MzyZpu3poMuAEfXIDo5vtoy5s2w8G67qHnm-unq7vi4fH2_uryoXBMsqGwwtrS0dL6WgIVviq9ZWKauWTU1o1yzEmleG0tkZSAqGpuhBPes5Ipxco9dLzK_Uz91wh50F3IDtrWROjHrKXklFeKTkK-ErrU55zA688UOpPmmhK9wKoXzPSCmVaVXmLVL5PtaJ0_2g6aP9Oa47S_WO1hevI7QNJ5CQCakMANuunD_wd-AecWiEw</recordid><startdate>1986</startdate><enddate>1986</enddate><creator>Lacey, Daniel J.</creator><creator>Duffner, Patricia K.</creator><creator>Cohen, Michael E.</creator><creator>Mosovich, Luis</creator><general>Elsevier Inc</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>1986</creationdate><title>Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency</title><author>Lacey, Daniel J. ; Duffner, Patricia K. ; Cohen, Michael E. ; Mosovich, Luis</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c272t-b5bb3c13bf97e15f63fb2513b4721b9d8c2c78849bb0710e5694a5c5ff2328823</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1986</creationdate><topic>Amino Acid Metabolism, Inborn Errors - diagnosis</topic><topic>Amino Acid Metabolism, Inborn Errors - enzymology</topic><topic>Ammonia - blood</topic><topic>Brain Diseases, Metabolic - diagnosis</topic><topic>Brain Diseases, Metabolic - enzymology</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Ornithine Carbamoyltransferase Deficiency Disease</topic><topic>Tomography, X-Ray Computed</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lacey, Daniel J.</creatorcontrib><creatorcontrib>Duffner, Patricia K.</creatorcontrib><creatorcontrib>Cohen, Michael E.</creatorcontrib><creatorcontrib>Mosovich, Luis</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>Pediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lacey, Daniel J.</au><au>Duffner, Patricia K.</au><au>Cohen, Michael E.</au><au>Mosovich, Luis</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency</atitle><jtitle>Pediatric neurology</jtitle><addtitle>Pediatr Neurol</addtitle><date>1986</date><risdate>1986</risdate><volume>2</volume><issue>1</issue><spage>51</spage><epage>53</epage><pages>51-53</pages><issn>0887-8994</issn><eissn>1873-5150</eissn><abstract>A girl, ultimately diagnosed as having profound ornithine transcarbamylase (OTC) deficiency, presented as a neonate with feeding intolerance, irritability, and seizures without concurrent hyperammonemia. Developing normally until ten months of age, the girl subsequently experienced two episodes of hyperammonemia, which were associated with focal seizures and residual hemiparesis. She continued to have profound neurologic impairment and seizures and died at 26 months of age, despite appropriate dietary protein restriction, sodium benzoate, and arginine supplementation. Symptomatic OTC deficiency has not been previously reported unassociated with hyperammonemia. The recurrent cerebrovascular episodes are distinctly uncommon in patients with urea cycle enzymopathies.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>3508674</pmid><doi>10.1016/0887-8994(86)90041-X</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0887-8994 |
| ispartof | Pediatric neurology, 1986, Vol.2 (1), p.51-53 |
| issn | 0887-8994 1873-5150 |
| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - enzymology Ammonia - blood Brain Diseases, Metabolic - diagnosis Brain Diseases, Metabolic - enzymology Child, Preschool Female Follow-Up Studies Humans Infant Infant, Newborn Ornithine Carbamoyltransferase Deficiency Disease Tomography, X-Ray Computed |
| title | Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency |
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