Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by early onset, autosomal dominant inheritance and primary defects of insulin secretion. Mutations in six genes cause most of the MODY cases. These genes encode the enzyme glucokinase and the transcription factors hepatocyte nuclear factor 4alpha, hepatocyte nuclear factor 1alpha, insulin promoter factor-1, hepatocyte nuclear factor 1beta and neuroD1. Additional MODY genes remain to be identified. The study of families with MODY has shown that the different MODY subtypes present different metabolic and clinical profiles.
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