Endocrine Abstracts

Introduction: Maternally inherited diabetes and deafness (MIDD) that is caused by a pathogenic variant in mitochondrial DNA (mtDNA) can cause different phenotypes based on percent heteroplasmy load, with higher mutation load corresponding with disease severity. The m.A3243G mutation causes either classic MELAS or MIDD that is a partial form. The condition is characterised by diabetes, hearing impairment and maculopathy but can have several other clinical manifestations. Early ...