Main clinical features
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a delayed progressive onset suggesting a cumulative damage due to intracellular thiamine deficiency
associated with non insulin dependent diabetes mellitus and neurosensory deafness
megaloblastic anemia, thrombocytopenia, diabetes mellitus and sensorineural deafness (if not treated or if treated too late individuals also develop mental retardation) (PMID: 22152682))
diagnosis of TRMA should be suspected in patients with syndromic diabetes including hearing loss and anaemia, even if the latter is only very mild (PMID: 17659067)) |