ESPE Abstracts

Introduction: Single, large scale mitochondrial DNA (mtDNA) deletions (SLSMDs) comprise clinically heterogeneous group of rare and progressive multisystem disorders. Diverse initial symptoms, evolving and overlapping phenotype together with genetic heterogeneity pose a major challenge in diagnosis and treatment. We report on a young girl with SLSMD who presented with unique constellation of initial symptoms including diabetes mellitus (DM), macrocytosis, and s...