Maturity onset diabetes of the young

Abstract

GPs not only diagnose common metabolic and endocrine conditions, but also must recognise rare disorders and ultimately offer accurate diagnoses with appropriate investigations. In cases where treatment options exist, an early diagnosis is often crucial to the success of treatment and the possibility of reversing or stalling progressive symptoms. Maturity onset diabetes of the young (MODY) is a rare form of diabetes, which is different from type 1 and type 2 diabetes mellitus (DM) and characterised by a single gene ‘monogenic’ mutation with autosomal-dominant inheritance. It is estimated that approximately 80% of patients with MODY are initially misdiagnosed with type 1 or type 2 DM, and awareness of this condition among primary care physicians should improve diagnosis. The aim of this article is to present basic information about this rare, but rather important, genetic disorder that is linked to diabetes in younger people.