title: Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.
abstract: Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an uncommon autosomal recessive disorder. The disease is caused by mutations in the gene, SLC19A2, encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells. Major features include megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Cardiac malformations with conduction defects and/or dysrhythmias, have also been described in some patients. To our knowledge, only 13 TRMA patients with cardiac defects have been reported. Here, we describe the first case of TRMA syndrome with atrial standstill, probably caused by a 2 base-pair deletion in exon 4 (1147delGT) of the gene SLC19A2.
authors.affiliation: Dr Sami Ulus Pediatric Diseases Training and Research Hospital, Ankara, Turkey.
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Veysel Nijat
authors.initials: VN
authors.lastname: Baş
authors.forename: Semra
authors.initials: S
authors.lastname: Cetinkaya
authors.forename: Sebahat Yilmaz
authors.initials: SY
authors.lastname: Ağladioğlu
authors.forename: Havva Nur Peltek
authors.initials: HN
authors.lastname: Kendirci
authors.forename: Filiz
authors.initials: F
authors.lastname: Senocak
mesh_terms: D000749:Anemia, Megaloblastic / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D003920:Diabetes Mellitus / Q000235:genetics / Q000503:physiopathology; D016368:Frameshift Mutation; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D006325:Heart Atria / Q000503:physiopathology*; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D013832:Thiamine Deficiency / Q000151:congenital
chemical_list: D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D007655:Ketoglutarate Dehydrogenase Complex