Late‐onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation
Urea cycle disorders (UCDs) are rare causes of hyperammonemic encephalopathy in adults. Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition or atypical pr...
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| Veröffentlicht in: | Liver transplantation 2011-12, Vol.17 (12), p.1481-1484 |
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| container_issue | 12 |
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| container_title | Liver transplantation |
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| creator | Bates, Timothy R. Lewis, Barry D. Burnett, John R. So, Kenji Mitchell, Andrew Delriviere, Luc Jeffrey, Gary P. |
| description | Urea cycle disorders (UCDs) are rare causes of hyperammonemic encephalopathy in adults. Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition or atypical presentations. We describe the case of a 49‐year‐old man who initially presented with a stroke and developed hyperammonemic encephalopathy over a period of 8 months. A diagnosis of carbamoyl phosphate synthetase type 1 deficiency was made, and the patient was referred for liver transplantation. One year after liver transplantation, the patient had normal plasma ammonia concentrations and had returned to work. Liver Transpl, 2011. © 2011 AASLD. |
| doi_str_mv | 10.1002/lt.22407 |
| format | Article |
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Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition or atypical presentations. We describe the case of a 49‐year‐old man who initially presented with a stroke and developed hyperammonemic encephalopathy over a period of 8 months. A diagnosis of carbamoyl phosphate synthetase type 1 deficiency was made, and the patient was referred for liver transplantation. One year after liver transplantation, the patient had normal plasma ammonia concentrations and had returned to work. 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Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition or atypical presentations. We describe the case of a 49‐year‐old man who initially presented with a stroke and developed hyperammonemic encephalopathy over a period of 8 months. A diagnosis of carbamoyl phosphate synthetase type 1 deficiency was made, and the patient was referred for liver transplantation. One year after liver transplantation, the patient had normal plasma ammonia concentrations and had returned to work. Liver Transpl, 2011. © 2011 AASLD.</description><subject>Age of Onset</subject><subject>Brain Diseases, Metabolic - etiology</subject><subject>Carbamoyl-Phosphate Synthase (Ammonia) - deficiency</subject><subject>Carbamoyl-Phosphate Synthase I Deficiency Disease</subject><subject>Humans</subject><subject>Hyperammonemia - etiology</subject><subject>Immunosuppressive Agents - therapeutic use</subject><subject>Liver Transplantation</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Stroke - etiology</subject><subject>Treatment Outcome</subject><subject>Urea Cycle Disorders, Inborn - complications</subject><subject>Urea Cycle Disorders, Inborn - diagnosis</subject><subject>Urea Cycle Disorders, Inborn - enzymology</subject><subject>Urea Cycle Disorders, Inborn - surgery</subject><issn>1527-6465</issn><issn>1527-6473</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kN1Kw0AQhRdRbK2CTyB751Xq_iWbXkrxDwre1OswuzuhkW0Ssxsldz6Cz-iTGFstDJwD55thOIRccjbnjIkbH-dCKKaPyJSnQieZ0vL44LN0Qs5CeGWM83TBTslE8FxqreSU2BVE_P78auqAkVroDGybwdN204R2M2Y0DHXcYISAlFOHZWUrrO1Aq5rCOK73417foaNmoL56x47GDurQeqgjxKqpz8lJCT7gxZ_OyMv93Xr5mKyeH56Wt6vEylzrRJcZNyJV0liTo8hTADQLx0CZzDg1WrEQ0qFDAKNUDq60PCvTlIEVErickev93bZr3noMsdhWwaIfH8GmD8WCaa4yrtlIXv2RvdmiK9qu2kI3FP-9jECyBz4qj8Mh56z47bvwsdj1XazWO5U_xGV03w</recordid><startdate>201112</startdate><enddate>201112</enddate><creator>Bates, Timothy R.</creator><creator>Lewis, Barry D.</creator><creator>Burnett, John R.</creator><creator>So, Kenji</creator><creator>Mitchell, Andrew</creator><creator>Delriviere, Luc</creator><creator>Jeffrey, Gary P.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201112</creationdate><title>Late‐onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation</title><author>Bates, Timothy R. ; Lewis, Barry D. ; Burnett, John R. ; So, Kenji ; Mitchell, Andrew ; Delriviere, Luc ; Jeffrey, Gary P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3877-7f61b2543bcb8e285aaeb9d0a4b6bd4b9d2923dedeaab448adfc16f550ac23a13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Age of Onset</topic><topic>Brain Diseases, Metabolic - etiology</topic><topic>Carbamoyl-Phosphate Synthase (Ammonia) - deficiency</topic><topic>Carbamoyl-Phosphate Synthase I Deficiency Disease</topic><topic>Humans</topic><topic>Hyperammonemia - etiology</topic><topic>Immunosuppressive Agents - therapeutic use</topic><topic>Liver Transplantation</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Stroke - etiology</topic><topic>Treatment Outcome</topic><topic>Urea Cycle Disorders, Inborn - complications</topic><topic>Urea Cycle Disorders, Inborn - diagnosis</topic><topic>Urea Cycle Disorders, Inborn - enzymology</topic><topic>Urea Cycle Disorders, Inborn - surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bates, Timothy R.</creatorcontrib><creatorcontrib>Lewis, Barry D.</creatorcontrib><creatorcontrib>Burnett, John R.</creatorcontrib><creatorcontrib>So, Kenji</creatorcontrib><creatorcontrib>Mitchell, Andrew</creatorcontrib><creatorcontrib>Delriviere, Luc</creatorcontrib><creatorcontrib>Jeffrey, Gary P.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Liver transplantation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bates, Timothy R.</au><au>Lewis, Barry D.</au><au>Burnett, John R.</au><au>So, Kenji</au><au>Mitchell, Andrew</au><au>Delriviere, Luc</au><au>Jeffrey, Gary P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Late‐onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation</atitle><jtitle>Liver transplantation</jtitle><addtitle>Liver Transpl</addtitle><date>2011-12</date><risdate>2011</risdate><volume>17</volume><issue>12</issue><spage>1481</spage><epage>1484</epage><pages>1481-1484</pages><issn>1527-6465</issn><eissn>1527-6473</eissn><abstract>Urea cycle disorders (UCDs) are rare causes of hyperammonemic encephalopathy in adults. Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition or atypical presentations. We describe the case of a 49‐year‐old man who initially presented with a stroke and developed hyperammonemic encephalopathy over a period of 8 months. A diagnosis of carbamoyl phosphate synthetase type 1 deficiency was made, and the patient was referred for liver transplantation. One year after liver transplantation, the patient had normal plasma ammonia concentrations and had returned to work. Liver Transpl, 2011. © 2011 AASLD.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>21837743</pmid><doi>10.1002/lt.22407</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Liver transplantation, 2011-12, Vol.17 (12), p.1481-1484 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Alma/SFX Local Collection |
| subjects | Age of Onset Brain Diseases, Metabolic - etiology Carbamoyl-Phosphate Synthase (Ammonia) - deficiency Carbamoyl-Phosphate Synthase I Deficiency Disease Humans Hyperammonemia - etiology Immunosuppressive Agents - therapeutic use Liver Transplantation Male Middle Aged Stroke - etiology Treatment Outcome Urea Cycle Disorders, Inborn - complications Urea Cycle Disorders, Inborn - diagnosis Urea Cycle Disorders, Inborn - enzymology Urea Cycle Disorders, Inborn - surgery |
| title | Late‐onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation |
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