Neonatal diabetes caused by an SLC19A2 gene mutation presents as part of thiamine-responsive megaloblastic anemia (TRMA) syndrome — also known as Roger's syndrome — characterised by the triad of diabetes, megaloblastic anemia, and sensorineural deafness. This subtype represents a rare but clinically distinct form of monogenic diabetes with a specific therapeutic implication.
The patient presents with neonatal-onset diabetes in the setting of a confirmed or suspected SLC19A2 mutation, accompanied by megaloblastic anemia and sensorineural deafness — the defining features of TRMA syndrome. Accurate genetic characterisation of the diabetes subtype is essential, as it directly determines the treatment approach.
Unlike the vast majority of other neonatal diabetes subtypes — which require subcutaneous insulin — neonatal diabetes due to SLC19A2 mutation is thiamine-responsive. A specific vitamin-based intervention, rather than insulin, forms the cornerstone of management in this subtype. The complete structured regimen, including sequencing and monitoring, is available via the protocol below.
DOI: 10.1111/pedi.13426
Apart from KATP-NDM and some persons with SLC19A2 mutations causing thiamine-responsive megaloblastic anemia (TRMA) syndrome, all other causes need to be treated with subcutaneous insulin.
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