The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

Study Description: Infections are a leading cause of morbidity and mortality in children with mitochondrial (MtD) disease. This is a longitudinal natural history study of infection and immunity in children with mitochondrial disease. Objectives: This longitudinal natural history study aims to characterize biological factors that contribute to deleterious host-pathogen interactions in children with mitochondrial disease. Primary Objective: 1\) To document the relationship between infection and disease status in participants with mitochondrial disease via a natural history study. Secondary Objectives: 1. To capture descriptive and functional immunologic data in cohorts of mitochondrial participants by the collection of biologic specimens. 2. To document the vulnerability of organs affected by MtD which may manifest with dysfunction/failure during infection. Endpoints: Primary Endpoint: To provide insight into the mechanisms involved in the interplay between the immune system and mitochondrial metabolism. Secondary Endpoint: To document immunity in cohorts of mitochondrial disease patients.