Mitochondrial Disease in the Pediatric Patient

Abstract

Long referred to as the powerhouses of human cellular function, mitochondria are responsible for converting nutrients derived from food into adenosine triphosphate, the principal intracellular energy source on which normal eukaryotic cell function is entirely dependent. Although disease of the mitochondria is still considered to be relatively rare, diagnosis of the many mitochondrial respiratory chain disorders is on the rise, and it remains the most prevalent group of inherited neurometabolic diseases. Diagnosis is complicated by poor differentiation between signs and symptoms of other diseases, and the testing process is rigorous at best. Along with pharmaceutical intervention, nutrition is the primary means of support in these individuals, with a focus on adequate energy intake coupled with cofactor and vitamin supplementation. Unfortunately, as with all rare diseases, there is a distinct lack of adequate research to support one treatment over another. This article examines the current research regarding mitochondrial disease and dysfunction, primarily within the context of respiratory chain disorders diagnosed in childhood, and provides a general overview for health care workers and laypersons of nutritional interventions that may be needed to support adequate growth and development in pediatric patients with these diseases.