WebThiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. Web8 Feb 2012 · Thiamine-responsive megaloblastic anemia syndrome (TRMA) comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine.
Localization of the gene for thiamine-responsive megaloblastic anemia …
Web11 Sep 2010 · Abstract. Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from … Web9 Oct 2024 · Abstract. This case report describes a patient with a rare syndrome known as Thiamine-responsive Megaloblastic Anemia Syndrome (TRMA) which is an autosomal recessive disorder caused by gene mutation identified by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. We report a case of TRMA in a female … marketa houskova american nurses association
Thiamine responsive megaloblastic anemia syndrome
Web19 Apr 2012 · In a girl with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270), Scharfe et al. (2000) reported a G-to-A transition at nucleotide 1074 in exon 4 of the SLC19A2 gene, resulting in a trp358-to-ter mutation. In addition to TRMA, the girl had short stature, hepatosplenomegaly, retinal degeneration, and a 2-cm lesion in the parietal lobe … WebThiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease. Web6 Apr 2009 · A 4-year-old girl with TRMA whose anemia improved following administration of thiamine is reported and this case report sensitizes the early diagnosis and treatment withThiamine in children presenting with anemia, diabetes and deafness. Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by … market agreed coupon swap