{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:40:38Z","timestamp":1758192038844,"version":"3.44.0"},"reference-count":11,"publisher":"Necmettin Erbakan University Press","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C\u2009&gt;\u2009T; p.(Gln125Ter) and novel missense variant, c.1214C\u2009&gt;\u2009G; p.(Thr405Arg) in SLC19A2 gene. The first was diagnosed at 4 months with diabetes mellitus and severe anemia requiring transfusions. As TRMA was suspected, thiamine therapy was immediately started to prevent further transfusions and insulin therapy. His brother developed extreme anemia at 3 weeks of age while waiting for the results of the genetic test. Severe anemia in this sibling may have been prevented if thiamine had been initiated earlier.<\/jats:p>","DOI":"10.1055\/s-0040-1717136","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T19:04:37Z","timestamp":1602183877000},"page":"236-239","source":"Crossref","is-referenced-by-count":2,"title":["Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia\u2014Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation"],"prefix":"10.53391","volume":"11","author":[{"given":"Anita","family":"Spehar Uroic","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dragan","family":"Milenkovic","sequence":"additional","affiliation":[{"name":"Varnamo Hospital, Varnamo, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[{"name":"Molecular Genetics, University of Exeter Medical School, Exeter, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernest","family":"Bilic","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Centre Zagreb, Medical School, University of Zagreb, Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natasa","family":"Rojnic Putarek","sequence":"additional","affiliation":[{"name":"Medical School, Juraj Dobrila Univeristy of Pula, Pula, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nevena","family":"Krnic","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Centre Zagreb, Medical School, University of Zagreb, Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S0022-3476(69)80031-4","article-title":"Thiamine-responsive megaloblastic anemia","volume":"74","author":"F S Porter","year":"1969","journal-title":"J Pediatr"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/j.1399-5448.2012.00855.x","article-title":"Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia","volume":"13","author":"C Shaw-Smith","year":"2012","journal-title":"Pediatr Diabetes"},{"issue":"06","key":"ref3","doi-asserted-by":"crossref","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":"A K Bergmann","year":"2009","journal-title":"J Pediatr"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10162-006-0035-x","article-title":"Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype","volume":"7","author":"M C Liberman","year":"2006","journal-title":"J Assoc Res Otolaryngol"},{"issue":"05","key":"ref5","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1007\/s00125-018-4554-x","article-title":"Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome","volume":"61","author":"A M Habeb","year":"2018","journal-title":"Diabetologia"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"105","DOI":"10.3928\/0191-3913-20030301-12","article-title":"Cone-rod dystrophy in thiamine-responsive megaloblastic anemia","volume":"40","author":"A Kipioti","year":"2003","journal-title":"J Pediatr Ophthalmol Strabismus"},{"issue":"04","key":"ref7","doi-asserted-by":"crossref","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":"F M Meire","year":"2000","journal-title":"Ophthalmic Genet"},{"issue":"01","key":"ref8","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1080\/08035250500323715","article-title":"Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families","volume":"95","author":"C J Ricketts","year":"2006","journal-title":"Acta Paediatr"},{"issue":"02","key":"ref9","doi-asserted-by":"crossref","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":"K Potter","year":"2017","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"03","key":"ref10","first-page":"301","article-title":"Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness","volume":"51","author":"H Onal","year":"2009","journal-title":"Turk J Pediatr"},{"issue":"07","key":"ref11","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/ajmg.a.37015","article-title":"Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified","volume":"167","author":"V Mikstiene","year":"2015","journal-title":"Am J Med Genet A"}],"container-title":["Journal of Pediatric 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