{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:32:28Z","timestamp":1790184748154,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,9,29]],"date-time":"2003-09-29T00:00:00Z","timestamp":1064793600000},"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":[[2004,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thiamine\u2010responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine\u2010responsive anemia. Mutations in the <jats:italic>SLC19A2<\/jats:italic> gene encoding a high\u2010affinity thiamine transporter protein THTR\u20101 are responsible for the clinical features associated with TRMA syndrome. We report an African\u2010American female with TRMA\u2010syndrome associated with thyroid disease and retinitis pigmentosa caused by a novel mutation in the <jats:italic>SLC19A2<\/jats:italic> gene. The patient presented at 12 months of age with paroxysmal atrial tachycardia and hepatosplenomegaly. One month later, she developed DM requiring intermittent insulin therapy. At 2\u20101\/2 years of age, profound sensorineural hearing loss was discovered. By 4 years of age, daily insulin therapy (0.5 U\/kg\/day) was instituted and her insulin requirement gradually increased to 1.0 U\/kg\/day by 9 years of age. She developed optic atrophy, retinitis pigmentosa, and visual impairment by 12 years of age with severe restriction of peripheral vision by 16 years. At age 19, a thiamine\u2010responsive normocytic anemia was discovered. She was diagnosed with autoimmune thyroiditis at 20 years and she experienced a psychotic episode associated with a mood disorder at age 21. With oral thiamine therapy, her insulin requirement decreased by 30% over a 20 month period. Molecular analysis revealed that the patient is homozygous for a missense mutation (C152T) in exon 1 of the <jats:italic>SLC19A2<\/jats:italic> gene. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20506","type":"journal-article","created":{"date-parts":[[2004,2,26]],"date-time":"2004-02-26T20:14:19Z","timestamp":1077826459000},"page":"299-305","source":"Crossref","is-referenced-by-count":52,"title":["Novel mutation in the <i>SLC19A2<\/i> gene in an African\u2010American female with thiamine\u2010responsive megaloblastic anemia syndrome"],"prefix":"10.1002","volume":"125A","author":[{"given":"William H.","family":"Lagarde","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis E.","family":"Underwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Billie M.","family":"Moats\u2010Staats","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali S.","family":"Calikoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,9,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80011-1"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1993.tb03049.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00547.2001"},{"issue":"11","key":"e_1_2_8_5_1","first-page":"1295","article-title":"Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia","volume":"38","author":"Bappal B","year":"2001","journal-title":"Indian Pediatr"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.00861.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/10385"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M003988200"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.45.31925"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.3112"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/10379"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2001.02774.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1982.tb01955.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/10372"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198409273111307"},{"issue":"4","key":"e_1_2_8_16_1","first-page":"127","article-title":"Wolfram syndrome. 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