{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T22:07:40Z","timestamp":1764194860589},"reference-count":9,"publisher":"Scientific Scholar","content-domain":{"domain":["nmji.in"],"crossmark-restriction":true},"short-container-title":["NMJI"],"abstract":"<jats:p>We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the <jats:italic>SLC19A2<\/jats:italic> gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. However, her vision could not be salvaged as the rod-cone dystrophy is a permanent damage.<\/jats:p>","DOI":"10.25259\/nmji_20_21","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T10:06:35Z","timestamp":1715940395000},"page":"314-315","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Thiamine-responsive megaloblastic anaemia"],"prefix":"10.25259","volume":"36","author":[{"given":"VIMAL MAVILA","family":"VEETIL","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DIVYA","family":"PACHAT","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"NIKITHA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JESHEERA MOHAMMED","family":"KUTTY","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2024,5,16]]},"reference":[{"key":"10.25259\/NMJI_20_21\/ref-1","doi-asserted-by":"publisher","first-page":"888","DOI":"10.1016\/j.jpeds.2009.06.017","article-title":"Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update","volume":"155","author":"Bergmann","year":"2009","journal-title":"J Pediatr"},{"key":"10.25259\/NMJI_20_21\/ref-2","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1007\/s12185-010-0681-y","article-title":"Thiamine-responsive megaloblastic anemia syndrome","volume":"92","author":"Bay","year":"2010","journal-title":"Int J Hematol"},{"key":"10.25259\/NMJI_20_21\/ref-3","doi-asserted-by":"publisher","first-page":"3556","DOI":"10.1182\/blood-2003-05-1537","article-title":"Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA)","volume":"102","author":"Boros","year":"2003","journal-title":"Blood"},{"key":"10.25259\/NMJI_20_21\/ref-4","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1076\/1381-6810(200012)2141-HFT243","article-title":"Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy","volume":"21","author":"Meire","year":"2000","journal-title":"Ophthalmic Genet"},{"key":"10.25259\/NMJI_20_21\/ref-5","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/S0022-3476(89)80558-X","article-title":"Thiamine-responsive anemia in DIDMOAD syndrome","volume":"114","author":"Borgna-Pignatti","year":"1989","journal-title":"J Pediatr"},{"key":"10.25259\/NMJI_20_21\/ref-6","first-page":"172","article-title":"Thiamine responsive megaloblastic anemia","volume":"46","author":"Mathews","year":"2009","journal-title":"Indian Pediatr"},{"key":"10.25259\/NMJI_20_21\/ref-7","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1515\/jpem-2016-0322","article-title":"Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation","volume":"30","author":"Potter","year":"2017","journal-title":"J Pediatr Endocrinol Metab"},{"key":"10.25259\/NMJI_20_21\/ref-8","doi-asserted-by":"publisher","first-page":"36","DOI":"10.4274\/jcrpe.v3i1.08","article-title":"Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?","volume":"3","author":"Ak\u00fdn","year":"2011","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"10.25259\/NMJI_20_21\/ref-9","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1016\/S0022-3476(69)80031-4","article-title":"Thiamine-responsive megaloblastic anemia","volume":"74","author":"Porter","year":"1969","journal-title":"J Pediatr"}],"container-title":["The National Medical Journal of India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/nmji.in\/thiamine-responsive-megaloblastic-anaemia\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/nmji.in\/thiamine-responsive-megaloblastic-anaemia\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T11:08:05Z","timestamp":1715944085000},"score":1,"resource":{"primary":{"URL":"https:\/\/nmji.in\/thiamine-responsive-megaloblastic-anaemia\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,16]]},"references-count":9,"alternative-id":["10.25259\/NMJI_20_21"],"URL":"https:\/\/doi.org\/10.25259\/nmji_20_21","relation":{},"ISSN":["2583-150X","0970-258X"],"issn-type":[{"value":"2583-150X","type":"electronic"},{"value":"0970-258X","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5,16]]},"article-number":"314"}}