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.
MeSH terms
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Anemia, Megaloblastic / complications
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Anemia, Megaloblastic / genetics
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Anemia, Megaloblastic / physiopathology
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Arrhythmias, Cardiac / complications
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Arrhythmias, Cardiac / genetics*
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Arrhythmias, Cardiac / physiopathology
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Child
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Diabetes Mellitus / genetics
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Diabetes Mellitus / physiopathology
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Frameshift Mutation
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Hearing Loss, Sensorineural / complications
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Hearing Loss, Sensorineural / genetics
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Hearing Loss, Sensorineural / physiopathology
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Heart Atria / physiopathology*
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Humans
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Ketoglutarate Dehydrogenase Complex / deficiency
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Ketoglutarate Dehydrogenase Complex / genetics
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Male
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Membrane Transport Proteins / genetics*
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Thiamine Deficiency / congenital
Substances
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Membrane Transport Proteins
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SLC19A2 protein, human
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Ketoglutarate Dehydrogenase Complex
Supplementary concepts
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Thiamine responsive megaloblastic anemia syndrome