{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:45:30Z","timestamp":1760985930097,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,6,26]],"date-time":"2020-06-26T00:00:00Z","timestamp":1593129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well\u2010described disorder of vitamin B<jats:sub>12<\/jats:sub> metabolism caused by mutations in the <jats:italic>MMACHC<\/jats:italic> gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin and oral betaine may reduce the severity of symptoms and improve clinical outcome. We report a female patient diagnosed with late\u2010onset cobalamin C deficiency at the age of 8 months who presented with developmental regression and severe dermatitis. She developed a movement disorder after initiation of hydroxycobalamin treatment. Similar movement disorders have been described in patients with nutritional vitamin B<jats:sub>12<\/jats:sub> deficiencies following cobalamin supplementation but have not previously been reported in patients with cobalamin C disorder. The movement disorder in our patient gradually resolved with clonazepam treatment, despite no seizure activity detected on EEG. She was eventually weaned off the clonazepam and the abnormal movements have not recurred. The patient remains developmentally delayed but is showing no other symptoms related to cobalamin C deficiency. The patient has a younger affected sibling who was treated from birth and who is physically and developmentally entirely normal; she did not have abnormal movements after treatment with hydroxycobalamin was initiated. There is no clear consensus on the cause of movement disorders that develop following initiation of intramuscular vitamin B<jats:sub>12<\/jats:sub> treatment.<\/jats:p>","DOI":"10.1002\/jmd2.12145","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T08:26:53Z","timestamp":1593246413000},"page":"22-25","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder"],"prefix":"10.1002","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9746-8587","authenticated-orcid":false,"given":"Ashley","family":"Wilson","sequence":"first","affiliation":[{"name":"Division of Clinical &amp; Metabolic Genetics The Hospital for Sick Children  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivian","family":"Cruz","sequence":"additional","affiliation":[{"name":"Division of Clinical &amp; Metabolic Genetics The Hospital for Sick Children  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan B.","family":"Kronick","sequence":"additional","affiliation":[{"name":"Division of Clinical &amp; Metabolic Genetics The Hospital for Sick Children  Toronto Canada"},{"name":"Department of Pediatrics The University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1683"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9364-y"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9161-z"},{"key":"e_1_2_8_5_1","unstructured":"SloanJL CarilloN AdamsD et al. Disorders of Intracellular Cobalamin Metabolism. In: Adam MP Ardinger HH Pagon RA et al. eds.GeneReviews\u00ae. Seattle WA: University of Washington Seattle;2008:1993\u20132020. Available from:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1328\/Ad"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9991-4"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2013.05.014"},{"issue":"161","key":"e_1_2_8_8_1","article-title":"Three new cases of late\u2010onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy","volume":"9","author":"Huemer M","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005353530303"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.04.001"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.11.005"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9687-6"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21001"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2006.10.016"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/PEC.0b013e318180ff32"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.99.2.255"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00235-6"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809333528"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00289-2"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjmd2.12145","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12145","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12145","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12145","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T11:29:51Z","timestamp":1692876591000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,26]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/jmd2.12145"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12145","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"type":"print","value":"2192-8312"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2020,6,26]]},"assertion":[{"value":"2020-02-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}