This prospective cohort study will compare breath biomarkers from subjects with mitochondrial disease to healthy controls. The age range for the study is 4-80 years and all subjects will be recruited at CHOP. Participation would consist of a one time visit, up to 45 minutes maximum, to collect identifiable information and breath sample. The goal is to identify VOC biomarkers that characterize mitochondrial disease compared to healthy controls, which could lead to a non-invasive breath test for mitochondrial function. Subjects will be compensated as a form of appreciation for participating in the study.

We are studying an investigational drug called sodium dichloroacetate (DCA). Investigational means that the study drug has not been approved by the US Food and Drug Administration (FDA) and that its use in this study is experimental. This a purpose of this research study is to determine whether DCA is a helpful treatment for patient with pyruvate dehydrogenase complex (PDC) deficiency (PDCD).

The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a central web portal that makes it easier to organize and analyze information from individuals and families with diagnosed and suspected mitochondrial disease. Currently, there is no mechanism in place to allow this group of individuals and families to choose who can access and analyze their information. The purpose of this project is to (1) Make it easier for participants to share their genomic data and (2) allow participants and/or their families to choose who can have access to and analyze these data, and how easily their data can be identified.