Successful living donor liver transplantation for classical maple syrup urine disease
MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted prote...
Gespeichert in:
| Veröffentlicht in: | Pediatric transplantation 2016-08, Vol.20 (5), p.707-710 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 710 |
|---|---|
| container_issue | 5 |
| container_start_page | 707 |
| container_title | Pediatric transplantation |
| container_volume | 20 |
| creator | Yasui, Toshihiro Suzuki, Tatsuya Hara, Fujio Watanabe, Shunsuke Uga, Naoko Naoe, Atsuki Yoshikawa, Tetsushi Ito, Tetsuya Nakajima, Yoko Miura, Hiroki Sugioka, Atsushi Kato, Yutaro Tokoro, Takamasa Tanahashi, Yoshinao Kasahara, Mureo Fukuda, Akinari Kurahashi, Hiroki |
| description | MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15‐month‐old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet. Despite episodes of acute rejection, chylous ascites, and high fever (40 °C), he has shown no evidence of MSUD recurrence. These findings indicate that patients with MSUD can be successfully treated by LDLT, even when the donor is a heterozygous carrier of a mutated BCKDH gene. |
| doi_str_mv | 10.1111/petr.12738 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1808696658</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1808696658</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4318-fb8e3d1c40616cf19c48f4698cd81359052466837a84be6943483c0ca5e090243</originalsourceid><addsrcrecordid>eNp9kE1LAzEQhoMotlYv_gDZowhbk002TY5S6gcUFG3PIc3OSiT7YbKr9N-bdqtH5zIzzMPD8CJ0SfCUxLptofNTks2oOEJjQqVMKWb8eD_PUkpYNkJnIXxgTDgT7BSNIktkBMdo_dYbAyGUvUuc_bL1e1I0deN3C_ik87oOrdN1pzvb1EkZL8bpEKzRLql06yAJW9-3Se9tDUlhA-gA5-ik1C7AxaFP0Pp-sZo_psvnh6f53TI1jBKRlhsBtCCGYU64KYk0TJSMS2EKQWgucZ4xzgWdacE2wCWjTFCDjc4BS5wxOkHXg7f1zWcPoVOVDQZcfBiaPigisOCS81xE9GZAjW9C8FCq1ttK-60iWO1iVLsY1T7GCF8dvP2mguIP_c0tAmQAvq2D7T8q9bJYvQ7SHz0DfbY</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1808696658</pqid></control><display><type>article</type><title>Successful living donor liver transplantation for classical maple syrup urine disease</title><source>Wiley Online Library Journals Frontfile Complete</source><creator>Yasui, Toshihiro ; Suzuki, Tatsuya ; Hara, Fujio ; Watanabe, Shunsuke ; Uga, Naoko ; Naoe, Atsuki ; Yoshikawa, Tetsushi ; Ito, Tetsuya ; Nakajima, Yoko ; Miura, Hiroki ; Sugioka, Atsushi ; Kato, Yutaro ; Tokoro, Takamasa ; Tanahashi, Yoshinao ; Kasahara, Mureo ; Fukuda, Akinari ; Kurahashi, Hiroki</creator><creatorcontrib>Yasui, Toshihiro ; Suzuki, Tatsuya ; Hara, Fujio ; Watanabe, Shunsuke ; Uga, Naoko ; Naoe, Atsuki ; Yoshikawa, Tetsushi ; Ito, Tetsuya ; Nakajima, Yoko ; Miura, Hiroki ; Sugioka, Atsushi ; Kato, Yutaro ; Tokoro, Takamasa ; Tanahashi, Yoshinao ; Kasahara, Mureo ; Fukuda, Akinari ; Kurahashi, Hiroki</creatorcontrib><description>MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15‐month‐old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet. Despite episodes of acute rejection, chylous ascites, and high fever (40 °C), he has shown no evidence of MSUD recurrence. These findings indicate that patients with MSUD can be successfully treated by LDLT, even when the donor is a heterozygous carrier of a mutated BCKDH gene.</description><identifier>ISSN: 1397-3142</identifier><identifier>EISSN: 1399-3046</identifier><identifier>DOI: 10.1111/petr.12738</identifier><identifier>PMID: 27319399</identifier><language>eng</language><publisher>Denmark</publisher><subject>domino liver transplantation ; heterozygous ; living donor liver transplantation ; maple syrup urine disease</subject><ispartof>Pediatric transplantation, 2016-08, Vol.20 (5), p.707-710</ispartof><rights>2016 The Authors. .</rights><rights>2016 The Authors. Pediatric Transplantation Published by Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4318-fb8e3d1c40616cf19c48f4698cd81359052466837a84be6943483c0ca5e090243</citedby><cites>FETCH-LOGICAL-c4318-fb8e3d1c40616cf19c48f4698cd81359052466837a84be6943483c0ca5e090243</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpetr.12738$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpetr.12738$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>314,777,781,1412,27905,27906,45555,45556</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27319399$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yasui, Toshihiro</creatorcontrib><creatorcontrib>Suzuki, Tatsuya</creatorcontrib><creatorcontrib>Hara, Fujio</creatorcontrib><creatorcontrib>Watanabe, Shunsuke</creatorcontrib><creatorcontrib>Uga, Naoko</creatorcontrib><creatorcontrib>Naoe, Atsuki</creatorcontrib><creatorcontrib>Yoshikawa, Tetsushi</creatorcontrib><creatorcontrib>Ito, Tetsuya</creatorcontrib><creatorcontrib>Nakajima, Yoko</creatorcontrib><creatorcontrib>Miura, Hiroki</creatorcontrib><creatorcontrib>Sugioka, Atsushi</creatorcontrib><creatorcontrib>Kato, Yutaro</creatorcontrib><creatorcontrib>Tokoro, Takamasa</creatorcontrib><creatorcontrib>Tanahashi, Yoshinao</creatorcontrib><creatorcontrib>Kasahara, Mureo</creatorcontrib><creatorcontrib>Fukuda, Akinari</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><title>Successful living donor liver transplantation for classical maple syrup urine disease</title><title>Pediatric transplantation</title><addtitle>Pediatr Transplant</addtitle><description>MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15‐month‐old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet. Despite episodes of acute rejection, chylous ascites, and high fever (40 °C), he has shown no evidence of MSUD recurrence. These findings indicate that patients with MSUD can be successfully treated by LDLT, even when the donor is a heterozygous carrier of a mutated BCKDH gene.</description><subject>domino liver transplantation</subject><subject>heterozygous</subject><subject>living donor liver transplantation</subject><subject>maple syrup urine disease</subject><issn>1397-3142</issn><issn>1399-3046</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNp9kE1LAzEQhoMotlYv_gDZowhbk002TY5S6gcUFG3PIc3OSiT7YbKr9N-bdqtH5zIzzMPD8CJ0SfCUxLptofNTks2oOEJjQqVMKWb8eD_PUkpYNkJnIXxgTDgT7BSNIktkBMdo_dYbAyGUvUuc_bL1e1I0deN3C_ik87oOrdN1pzvb1EkZL8bpEKzRLql06yAJW9-3Se9tDUlhA-gA5-ik1C7AxaFP0Pp-sZo_psvnh6f53TI1jBKRlhsBtCCGYU64KYk0TJSMS2EKQWgucZ4xzgWdacE2wCWjTFCDjc4BS5wxOkHXg7f1zWcPoVOVDQZcfBiaPigisOCS81xE9GZAjW9C8FCq1ttK-60iWO1iVLsY1T7GCF8dvP2mguIP_c0tAmQAvq2D7T8q9bJYvQ7SHz0DfbY</recordid><startdate>201608</startdate><enddate>201608</enddate><creator>Yasui, Toshihiro</creator><creator>Suzuki, Tatsuya</creator><creator>Hara, Fujio</creator><creator>Watanabe, Shunsuke</creator><creator>Uga, Naoko</creator><creator>Naoe, Atsuki</creator><creator>Yoshikawa, Tetsushi</creator><creator>Ito, Tetsuya</creator><creator>Nakajima, Yoko</creator><creator>Miura, Hiroki</creator><creator>Sugioka, Atsushi</creator><creator>Kato, Yutaro</creator><creator>Tokoro, Takamasa</creator><creator>Tanahashi, Yoshinao</creator><creator>Kasahara, Mureo</creator><creator>Fukuda, Akinari</creator><creator>Kurahashi, Hiroki</creator><scope>24P</scope><scope>WIN</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>201608</creationdate><title>Successful living donor liver transplantation for classical maple syrup urine disease</title><author>Yasui, Toshihiro ; Suzuki, Tatsuya ; Hara, Fujio ; Watanabe, Shunsuke ; Uga, Naoko ; Naoe, Atsuki ; Yoshikawa, Tetsushi ; Ito, Tetsuya ; Nakajima, Yoko ; Miura, Hiroki ; Sugioka, Atsushi ; Kato, Yutaro ; Tokoro, Takamasa ; Tanahashi, Yoshinao ; Kasahara, Mureo ; Fukuda, Akinari ; Kurahashi, Hiroki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4318-fb8e3d1c40616cf19c48f4698cd81359052466837a84be6943483c0ca5e090243</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>domino liver transplantation</topic><topic>heterozygous</topic><topic>living donor liver transplantation</topic><topic>maple syrup urine disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yasui, Toshihiro</creatorcontrib><creatorcontrib>Suzuki, Tatsuya</creatorcontrib><creatorcontrib>Hara, Fujio</creatorcontrib><creatorcontrib>Watanabe, Shunsuke</creatorcontrib><creatorcontrib>Uga, Naoko</creatorcontrib><creatorcontrib>Naoe, Atsuki</creatorcontrib><creatorcontrib>Yoshikawa, Tetsushi</creatorcontrib><creatorcontrib>Ito, Tetsuya</creatorcontrib><creatorcontrib>Nakajima, Yoko</creatorcontrib><creatorcontrib>Miura, Hiroki</creatorcontrib><creatorcontrib>Sugioka, Atsushi</creatorcontrib><creatorcontrib>Kato, Yutaro</creatorcontrib><creatorcontrib>Tokoro, Takamasa</creatorcontrib><creatorcontrib>Tanahashi, Yoshinao</creatorcontrib><creatorcontrib>Kasahara, Mureo</creatorcontrib><creatorcontrib>Fukuda, Akinari</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Wiley Free Content</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Pediatric transplantation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yasui, Toshihiro</au><au>Suzuki, Tatsuya</au><au>Hara, Fujio</au><au>Watanabe, Shunsuke</au><au>Uga, Naoko</au><au>Naoe, Atsuki</au><au>Yoshikawa, Tetsushi</au><au>Ito, Tetsuya</au><au>Nakajima, Yoko</au><au>Miura, Hiroki</au><au>Sugioka, Atsushi</au><au>Kato, Yutaro</au><au>Tokoro, Takamasa</au><au>Tanahashi, Yoshinao</au><au>Kasahara, Mureo</au><au>Fukuda, Akinari</au><au>Kurahashi, Hiroki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Successful living donor liver transplantation for classical maple syrup urine disease</atitle><jtitle>Pediatric transplantation</jtitle><addtitle>Pediatr Transplant</addtitle><date>2016-08</date><risdate>2016</risdate><volume>20</volume><issue>5</issue><spage>707</spage><epage>710</epage><pages>707-710</pages><issn>1397-3142</issn><eissn>1399-3046</eissn><abstract>MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15‐month‐old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet. Despite episodes of acute rejection, chylous ascites, and high fever (40 °C), he has shown no evidence of MSUD recurrence. These findings indicate that patients with MSUD can be successfully treated by LDLT, even when the donor is a heterozygous carrier of a mutated BCKDH gene.</abstract><cop>Denmark</cop><pmid>27319399</pmid><doi>10.1111/petr.12738</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1397-3142 |
| ispartof | Pediatric transplantation, 2016-08, Vol.20 (5), p.707-710 |
| issn | 1397-3142 1399-3046 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1808696658 |
| source | Wiley Online Library Journals Frontfile Complete |
| subjects | domino liver transplantation heterozygous living donor liver transplantation maple syrup urine disease |
| title | Successful living donor liver transplantation for classical maple syrup urine disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T09%3A27%3A10IST&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=Successful%20living%20donor%20liver%20transplantation%20for%20classical%20maple%20syrup%20urine%20disease&rft.jtitle=Pediatric%20transplantation&rft.au=Yasui,%20Toshihiro&rft.date=2016-08&rft.volume=20&rft.issue=5&rft.spage=707&rft.epage=710&rft.pages=707-710&rft.issn=1397-3142&rft.eissn=1399-3046&rft_id=info:doi/10.1111/petr.12738&rft_dat=%3Cproquest_cross%3E1808696658%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=1808696658&rft_id=info:pmid/27319399&rfr_iscdi=true |