{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T16:23:55Z","timestamp":1791649435897,"version":"4.3.4"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,2,29]],"date-time":"2020-02-29T00:00:00Z","timestamp":1582934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University Childrens' Hospital Z\u00fcrich"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10\u2010month\u2010old infant who was symptomatic since 5 months of age and who received an initial diagnosis of infantile tremor syndrome. She presented with rest tremor, decreased facial expression, global hypokinesia, and later on with oculogyric crisis and dystonia. This diagnosis was revised after confirmation of tyrosine hydroxylase deficiency by CSF neurotransmitter analysis. Genetic studies revealed one previously reported missense variant, p.Thr399Met, and another large deletion starting upstream of exon 1 and encompassing exon 1. She was started on treatment with escalating doses of L\u2010Dopa\/Carbidopa, with folinic acid supplementation. At 3.5\u2009years of age, her cognitive functioning and development is appropriate for age. There is complete subsidence of dystonia and oculogyric episodes. She has occasional chorieform movements which appear to be drug related.<\/jats:p>","DOI":"10.1002\/jmd2.12111","type":"journal-article","created":{"date-parts":[[2020,2,29]],"date-time":"2020-02-29T09:39:36Z","timestamp":1582969176000},"page":"12-15","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Tyrosine hydroxylase deficiency\u2014Clinical insights and a novel deletion in <i>TH<\/i> gene in an Indian patient"],"prefix":"10.1002","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5255-8212","authenticated-orcid":false,"given":"Sunita","family":"Bijarnia\u2010Mahay","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics &amp; Genomics Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology Santokba Durlabhji Memorial Hospital  Jaipur India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Th\u00f6ny","sequence":"additional","affiliation":[{"name":"Division of Metabolism University Children's Hospital Zurich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq087"},{"key":"e_1_2_10_3_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Furukawa Y","year":"2008"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-017-1055-9"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40734-017-0065-z"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003539"},{"key":"e_1_2_10_7_1","unstructured":"National Center for Biotechnology Information. ClinVar; [VCV000378729.2] https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000378729.2(accessed September 29 2019)."},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073815583688"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1076-1"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-015-9780-z"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23564"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21351"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjmd2.12111","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12111","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12111","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T08:40:36Z","timestamp":1693384836000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,29]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/jmd2.12111"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12111","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,29]]},"assertion":[{"value":"2019-11-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}