{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:32:59Z","timestamp":1790807579218,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["1731\/2\u20103"],"award-info":[{"award-number":["1731\/2\u20103"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Classical homocystinuria is caused by pathogenic variants in the CBS gene leading to a deficiency of the vitamin B6\u2010dependent enzyme cystathionine beta synthase. The disease is typically associated with high blood homocysteine concentrations. Clinical features include developmental delay\/intellectual disability, psychiatric problems, thromboembolism, lens dislocation, and marfanoid habitus. We report on a child with classical homocystinuria presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities mimicking a mitochondrial disease. After starting treatment with vitamin B6, homocysteine levels rapidly normalized and dystonic episodes did not re\u2010occur. Moreover, brain\u2010imaging findings almost completely disappeared. The case illustrates that homocystinuria should be considered as a treatable differential diagnosis of dystonia.<\/jats:p>","DOI":"10.1002\/jimd.12680","type":"journal-article","created":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T03:44:26Z","timestamp":1695008666000},"page":"1206-1208","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Classical homocystinuria presenting with transient basal ganglia pathology and dystonia"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0719-1607","authenticated-orcid":false,"given":"Luisa","family":"Averdunk","sequence":"first","affiliation":[{"name":"Department of General Pediatrics and Neonatology, University Children's Hospital, Medical Faculty Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Thimm","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics and Neonatology, University Children's Hospital, Medical Faculty Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Klee","sequence":"additional","affiliation":[{"name":"Institute of Radiology, Department of Pediatric Radiology, Medical Faculty Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4304-7848","authenticated-orcid":false,"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics and Neonatology, University Children's Hospital, Medical Faculty Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.09.013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711769"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12913-020-5054-5"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091823"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.46.3.283"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80019-2"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870060213"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.51.6.859"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20062"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015684912709"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21045"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0b013e318184a4c4"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T05:59:18Z","timestamp":1699855158000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/jimd.12680"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12680","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"2023-07-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}