{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T03:53:55Z","timestamp":1769831635902,"version":"3.49.0"},"reference-count":31,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,9,1]]},"abstract":"<jats:p>The thiamine transporter gene<jats:italic>SLC19A2<\/jats:italic> was recently found to be mutated in thiamine responsive megaloblastic anaemia with diabetes and deafness (TRMA, Rogers syndrome), an early onset autosomal recessive disorder. We now report a novel G1074A transition mutation in exon 4 of the<jats:italic>SLC19A2<\/jats:italic> gene, predicting a Trp358 to ter change, in a girl with consanguineous parents. In addition to the typical triad of Rogers syndrome, the girl presented with short stature, hepatosplenomegaly, retinal degeneration, and a brain MRI lesion. Both muscle and skin biopsies were obtained before high dose thiamine supplementation. While no mitochondrial abnormalities were seen on morphological examination of muscle, biochemical analysis showed a severe deficiency of pyruvate dehydrogenase and complex I of the respiratory chain. In the patient's fibroblasts, the supplementation with high doses of thiamine resulted in restoration of complex I activity. In conclusion, we provide evidence that thiamine deficiency affects complex I activity. The clinical features of TRMA, resembling in part those found in typical mitochondrial disorders with complex I deficiency, may be caused by a secondary defect in mitochondrial energy production.<\/jats:p>","DOI":"10.1136\/jmg.37.9.669","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"669-673","source":"Crossref","is-referenced-by-count":64,"title":["A novel mutation in the thiamine responsive megaloblastic anaemia gene <i>SLC19A2<\/i> in a patient with deficiency of respiratory chain complex I"],"prefix":"10.1136","volume":"37","author":[{"given":"Curt","family":"Scharfe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Hauschild","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoon J M","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H","family":"Heidemann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"Jaksch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,9,1]]},"reference":[{"key":"2025101711271748000_37.9.669.1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.12.6238"},{"key":"2025101711271748000_37.9.669.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81311-2"},{"key":"2025101711271748000_37.9.669.3","doi-asserted-by":"publisher","DOI":"10.1038\/382080a0"},{"key":"2025101711271748000_37.9.669.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80189-0"},{"key":"2025101711271748000_37.9.669.5","doi-asserted-by":"publisher","DOI":"10.1006\/mcne.1999.0754"},{"key":"2025101711271748000_37.9.669.6","doi-asserted-by":"publisher","DOI":"10.1038\/42722"},{"key":"2025101711271748000_37.9.669.7","doi-asserted-by":"publisher","DOI":"10.1038\/42729"},{"key":"2025101711271748000_37.9.669.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80649-2"},{"key":"2025101711271748000_37.9.669.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(07)00422-8"},{"key":"2025101711271748000_37.9.669.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80514-0"},{"key":"2025101711271748000_37.9.669.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81086-7"},{"key":"2025101711271748000_37.9.669.12","doi-asserted-by":"publisher","DOI":"10.1038\/367377a0"},{"key":"2025101711271748000_37.9.669.13","doi-asserted-by":"publisher","DOI":"10.1038\/367378a0"},{"key":"2025101711271748000_37.9.669.14","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1093\/ajcn\/66.2.320","article-title":"Thiamine uptake in human intestinal biopsy specimens, including observations from a patient with acute thiamine deficiency.","volume":"66","author":"Laforenza","year":"1997","journal-title":"Am J Clin Nutr"},{"key":"2025101711271748000_37.9.669.15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1381"},{"key":"2025101711271748000_37.9.669.16","doi-asserted-by":"crossref","first-page":"31925","DOI":"10.1074\/jbc.274.45.31925","article-title":"Cloning of the human thiamine transporter, a member of the folate transporter family.","volume":"274","author":"Dutta","year":"1999","journal-title":"J Biol Chem"},{"key":"2025101711271748000_37.9.669.17","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1023\/A:1005302717117","article-title":"Muscle biochemistry in thiamin-responsive anemia.","volume":"20","author":"Barrett","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"2025101711271748000_37.9.669.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-341"},{"key":"2025101711271748000_37.9.669.19","unstructured":"Fischer JC. 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