{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T22:42:09Z","timestamp":1791153729635,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T00:00:00Z","timestamp":1424649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease \u2013 megaloblastic anemia, early onset deafness, and non\u2010type I diabetes. TRMAS is a Mendelian disorder; a gene <jats:italic>SLC19A2<\/jats:italic> coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania \u2013 a 3\u2010year\u2010old boy born to a non\u2010consanguineous family with a novel homozygous <jats:italic>SLC19A2<\/jats:italic> gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100\u2009mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of <jats:italic>SLC19A2<\/jats:italic> gene molecular testing confirmed the clinical diagnosis \u2013 novel homozygous c.[205G&gt;T], p.[(Val69Phe)] mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37015","type":"journal-article","created":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T10:13:33Z","timestamp":1424686413000},"page":"1605-1609","source":"Crossref","is-referenced-by-count":29,"title":["Thiamine responsive megaloblastic anemia syndrome: A novel homozygous <i>SLC19A2<\/i> gene mutation identified"],"prefix":"10.1002","volume":"167","author":[{"given":"Violeta","family":"Mikstiene","sequence":"first","affiliation":[{"name":"Department of Human and Medical Genetics, Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurgita","family":"Songailiene","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jekaterina","family":"Byckova","sequence":"additional","affiliation":[{"name":"Centre of Ear, Nose and Throat Diseases Vilnius University Hospital Santari\u0161ki\u0173 Clinics Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giedre","family":"Rutkauskiene","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Unit Hospital of Lithuanian university of Health Sciences, Kaunas Clinics Kaunas Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edita","family":"Jasinskiene","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Hospital of Lithuanian University of Health Science, Kaunas Clinics Kaunas Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasa","family":"Verkauskiene","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Hospital of Lithuanian University of Health Science, Kaunas Clinics Kaunas Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenijus","family":"Lesinskas","sequence":"additional","affiliation":[{"name":"Centre of Ear, Nose and Throat Diseases Vilnius University Hospital Santari\u0161ki\u0173 Clinics Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Algirdas","family":"Utkus","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.017"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80558-X"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1537"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1043-6618(03)00176-2"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.45.31925"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.3112"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/10379"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.4274\/Jcrpe.969"},{"key":"e_1_2_5_10_1","first-page":"149","article-title":"Thiamine\u2010responsive megaloblastic anemia syndrome: A novel mutation","volume":"23","author":"Yilmaz Agladioglu S","year":"2012","journal-title":"Genet Couns"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-006-0035-x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.11.002"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2013.03.007"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2012.00921.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/301642"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2951"},{"key":"e_1_2_5_17_1","first-page":"301","article-title":"Thiamine\u2010responsive megaloblastic anemia: Early diagnosis may be effective in preventing deafness","volume":"51","author":"Onal H","year":"2009","journal-title":"Turk J Pediatr"},{"key":"e_1_2_5_18_1","unstructured":"Online Mendelian Inheritance in Man (OMIM) fromhttp:\/\/www.omim.org\/entry\/249270."},{"key":"e_1_2_5_19_1","unstructured":"Orphanet.2012. 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