Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children
•TH deficiency is an autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11.•TH deficiency leads to developmental delay, infantile parkinsonism and encephalopathy.•We report three TH deficiency patients. After L-DOPA treatment, their condition had...
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| Veröffentlicht in: | International journal of developmental neuroscience 2019-11, Vol.78 (1), p.28-32 |
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| container_title | International journal of developmental neuroscience |
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| creator | Hou, Mei Yang, Chengqing Hu, Jingfei Guo, Ya Liu, Peipei Liu, Yedan Song, Jie Wei, Wei Chen, Zongbo |
| description | •TH deficiency is an autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11.•TH deficiency leads to developmental delay, infantile parkinsonism and encephalopathy.•We report three TH deficiency patients. After L-DOPA treatment, their condition had improvement.
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11, also called‘Segawa Syndrome’. TH converts tyrosine into L-DOPA, which is the direct precursor of catecholamine biosynthesis. TH deficiency causes a neurological disease with primary extrapyramidal signs and a variable response to L-DOPA. We report three patients in China who were diagnosed with Tyrosine hydroxylase (TH) deficiency by genetic testing and clinical manifestations. After L-DOPA treatment, their condition had sustained improvement. |
| doi_str_mv | 10.1016/j.ijdevneu.2019.08.002 |
| format | Article |
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Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11, also called‘Segawa Syndrome’. TH converts tyrosine into L-DOPA, which is the direct precursor of catecholamine biosynthesis. TH deficiency causes a neurological disease with primary extrapyramidal signs and a variable response to L-DOPA. We report three patients in China who were diagnosed with Tyrosine hydroxylase (TH) deficiency by genetic testing and clinical manifestations. After L-DOPA treatment, their condition had sustained improvement.</description><identifier>ISSN: 0736-5748</identifier><identifier>EISSN: 1873-474X</identifier><identifier>DOI: 10.1016/j.ijdevneu.2019.08.002</identifier><identifier>PMID: 31419477</identifier><language>eng</language><publisher>United States: Elsevier Ltd</publisher><subject>Biosynthesis ; Catecholamine ; Catecholamines ; China ; Chromosome 11 ; Chromosomes ; Dihydroxyphenylalanine ; Dopamine ; Dopamine Agents - therapeutic use ; Dystonic Disorders - congenital ; Dystonic Disorders - drug therapy ; Extrapyramidal system ; Female ; Genetic diagnosis ; Genetic screening ; Humans ; Hydroxylase ; Infant ; Levodopa ; Levodopa - therapeutic use ; Male ; Neurological diseases ; Treatment ; Treatment Outcome ; Tyrosine ; Tyrosine 3-monooxygenase ; Tyrosine hydroxylase (TH) deficiency</subject><ispartof>International journal of developmental neuroscience, 2019-11, Vol.78 (1), p.28-32</ispartof><rights>2019 ISDN</rights><rights>Copyright © 2019 ISDN. Published by Elsevier Ltd. All rights reserved.</rights><rights>Copyright Elsevier BV Nov 2019</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4622-2d998f912b662292370a86aec7b99b181c65dd67728a213f75bea30de4f08c6b3</citedby><cites>FETCH-LOGICAL-c4622-2d998f912b662292370a86aec7b99b181c65dd67728a213f75bea30de4f08c6b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1016%2Fj.ijdevneu.2019.08.002$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1016%2Fj.ijdevneu.2019.08.002$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31419477$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hou, Mei</creatorcontrib><creatorcontrib>Yang, Chengqing</creatorcontrib><creatorcontrib>Hu, Jingfei</creatorcontrib><creatorcontrib>Guo, Ya</creatorcontrib><creatorcontrib>Liu, Peipei</creatorcontrib><creatorcontrib>Liu, Yedan</creatorcontrib><creatorcontrib>Song, Jie</creatorcontrib><creatorcontrib>Wei, Wei</creatorcontrib><creatorcontrib>Chen, Zongbo</creatorcontrib><title>Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children</title><title>International journal of developmental neuroscience</title><addtitle>Int J Dev Neurosci</addtitle><description>•TH deficiency is an autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11.•TH deficiency leads to developmental delay, infantile parkinsonism and encephalopathy.•We report three TH deficiency patients. After L-DOPA treatment, their condition had improvement.
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11, also called‘Segawa Syndrome’. TH converts tyrosine into L-DOPA, which is the direct precursor of catecholamine biosynthesis. TH deficiency causes a neurological disease with primary extrapyramidal signs and a variable response to L-DOPA. We report three patients in China who were diagnosed with Tyrosine hydroxylase (TH) deficiency by genetic testing and clinical manifestations. After L-DOPA treatment, their condition had sustained improvement.</description><subject>Biosynthesis</subject><subject>Catecholamine</subject><subject>Catecholamines</subject><subject>China</subject><subject>Chromosome 11</subject><subject>Chromosomes</subject><subject>Dihydroxyphenylalanine</subject><subject>Dopamine</subject><subject>Dopamine Agents - therapeutic use</subject><subject>Dystonic Disorders - congenital</subject><subject>Dystonic Disorders - drug therapy</subject><subject>Extrapyramidal system</subject><subject>Female</subject><subject>Genetic diagnosis</subject><subject>Genetic screening</subject><subject>Humans</subject><subject>Hydroxylase</subject><subject>Infant</subject><subject>Levodopa</subject><subject>Levodopa - therapeutic use</subject><subject>Male</subject><subject>Neurological diseases</subject><subject>Treatment</subject><subject>Treatment Outcome</subject><subject>Tyrosine</subject><subject>Tyrosine 3-monooxygenase</subject><subject>Tyrosine hydroxylase (TH) deficiency</subject><issn>0736-5748</issn><issn>1873-474X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkcFv0zAUxi0EYt3gX5gscRmHBNtJbOcG6jrWqhqXDnGzHPtFdZQmxU4K-e9xycaBC5xsf_q97z2_D6FrSlJKKP_QpK6xcOpgTBmhZUpkSgh7gRZUiizJRf7tJVoQkfGkELm8QJchNISQoiD5a3SR0ZyWuRALBFs49bY_auwChroGM7gTYNfhYQ948KCHA3QD7usoeAC83LsOAuDd5PsQr3g_Wd__nFodxZvd_XtsoXbGQWcmbPautR66N-hVrdsAb5_OK_R4t9ot75Ptl8_r5adtYnLOWMJsWcq6pKzi8VmyTBAtuQYjqrKsqKSGF9ZyIZjUjGa1KCrQGbGQ10QaXmVX6Gb2Pfr--whhUAcXDLSt7qAfg2JMFExEIxHRd3-hTT_6Lk6nWEZLyjNCzhSfKRN_GzzU6ujdQftJUaLOQahGPQehzkEoIlUMIhZeP9mP1QHsn7LnzUdgPQM_XAvTf9qqze3DZr25XX19WD2edSLnZh9nL4i7PTnwKvwOAKzzMVBle_eveX8BVKuzMQ</recordid><startdate>201911</startdate><enddate>201911</enddate><creator>Hou, Mei</creator><creator>Yang, Chengqing</creator><creator>Hu, Jingfei</creator><creator>Guo, Ya</creator><creator>Liu, Peipei</creator><creator>Liu, Yedan</creator><creator>Song, Jie</creator><creator>Wei, Wei</creator><creator>Chen, Zongbo</creator><general>Elsevier Ltd</general><general>Elsevier BV</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>7QR</scope><scope>7TK</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>201911</creationdate><title>Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children</title><author>Hou, Mei ; Yang, Chengqing ; Hu, Jingfei ; Guo, Ya ; Liu, Peipei ; Liu, Yedan ; Song, Jie ; Wei, Wei ; Chen, Zongbo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4622-2d998f912b662292370a86aec7b99b181c65dd67728a213f75bea30de4f08c6b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Biosynthesis</topic><topic>Catecholamine</topic><topic>Catecholamines</topic><topic>China</topic><topic>Chromosome 11</topic><topic>Chromosomes</topic><topic>Dihydroxyphenylalanine</topic><topic>Dopamine</topic><topic>Dopamine Agents - therapeutic use</topic><topic>Dystonic Disorders - congenital</topic><topic>Dystonic Disorders - drug therapy</topic><topic>Extrapyramidal system</topic><topic>Female</topic><topic>Genetic diagnosis</topic><topic>Genetic screening</topic><topic>Humans</topic><topic>Hydroxylase</topic><topic>Infant</topic><topic>Levodopa</topic><topic>Levodopa - therapeutic use</topic><topic>Male</topic><topic>Neurological diseases</topic><topic>Treatment</topic><topic>Treatment Outcome</topic><topic>Tyrosine</topic><topic>Tyrosine 3-monooxygenase</topic><topic>Tyrosine hydroxylase (TH) deficiency</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hou, Mei</creatorcontrib><creatorcontrib>Yang, Chengqing</creatorcontrib><creatorcontrib>Hu, Jingfei</creatorcontrib><creatorcontrib>Guo, Ya</creatorcontrib><creatorcontrib>Liu, Peipei</creatorcontrib><creatorcontrib>Liu, Yedan</creatorcontrib><creatorcontrib>Song, Jie</creatorcontrib><creatorcontrib>Wei, Wei</creatorcontrib><creatorcontrib>Chen, Zongbo</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of developmental neuroscience</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hou, Mei</au><au>Yang, Chengqing</au><au>Hu, Jingfei</au><au>Guo, Ya</au><au>Liu, Peipei</au><au>Liu, Yedan</au><au>Song, Jie</au><au>Wei, Wei</au><au>Chen, Zongbo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children</atitle><jtitle>International journal of developmental neuroscience</jtitle><addtitle>Int J Dev Neurosci</addtitle><date>2019-11</date><risdate>2019</risdate><volume>78</volume><issue>1</issue><spage>28</spage><epage>32</epage><pages>28-32</pages><issn>0736-5748</issn><eissn>1873-474X</eissn><abstract>•TH deficiency is an autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11.•TH deficiency leads to developmental delay, infantile parkinsonism and encephalopathy.•We report three TH deficiency patients. After L-DOPA treatment, their condition had improvement.
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11, also called‘Segawa Syndrome’. TH converts tyrosine into L-DOPA, which is the direct precursor of catecholamine biosynthesis. TH deficiency causes a neurological disease with primary extrapyramidal signs and a variable response to L-DOPA. We report three patients in China who were diagnosed with Tyrosine hydroxylase (TH) deficiency by genetic testing and clinical manifestations. After L-DOPA treatment, their condition had sustained improvement.</abstract><cop>United States</cop><pub>Elsevier Ltd</pub><pmid>31419477</pmid><doi>10.1016/j.ijdevneu.2019.08.002</doi><tpages>5</tpages></addata></record> |
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| subjects | Biosynthesis Catecholamine Catecholamines China Chromosome 11 Chromosomes Dihydroxyphenylalanine Dopamine Dopamine Agents - therapeutic use Dystonic Disorders - congenital Dystonic Disorders - drug therapy Extrapyramidal system Female Genetic diagnosis Genetic screening Humans Hydroxylase Infant Levodopa Levodopa - therapeutic use Male Neurological diseases Treatment Treatment Outcome Tyrosine Tyrosine 3-monooxygenase Tyrosine hydroxylase (TH) deficiency |
| title | Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children |
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