Searchable abstracts of presentations at key conferences in endocrinology

ea0024p39 | (1) | BSPED2010

Case series: is thiamine responsive megaloblastic anaemia and diabetes associated with cardiac anomalies

Aswani N , Price K

We describe four cases of Thiamine Responsive Megaloblastic Anaemia (TRMA), Rogers Syndrome. Three cases are siblings, the fourth from another family. They are all of Pakistani origin and born to consanguineous parents. All have the clinical triad of megaloblastic anaemia, non-type 1 diabetes mellitus, and sensorineural deafness.The SLC19A2 gene mutation affects the transport of thiamine, which is required for normal tissue growth and development in huma...