Abstract
AbstractMaturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to β‐cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice. In this paper, we report the clinical data of a patient diagnosed with diabetes. Genetic testing revealed a novel BLK heterozygous mutation (c.363G>A) in the patient and in his father and son. He had no islet‐specific autoantibodies and showed a reduced meal‐induced response of insulin. Precise diagnosis of MODY individuals is important to the treatment.
Published Version
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