Chapter 20 - MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome

Abstract

Infants and young children who present in acute liver failure require a specific, multidisciplinary evaluation to determine the etiology. The etiology of liver failure provides the specific treatment modalities possible. An important cause of acute liver failure in young children includes metabolic disease, and in particular mitochondrial disorders. While acute liver failure may be the presenting symptom in some children with mitochondrial disease, typically other symptoms are already present, including developmental delay, seizures, muscle weakness, cardiomyopathy, and renal involvement. The mitochondrial causes of hepatopathy and liver failure include mitochondrial depletion syndromes, and other specific mitochondrial or nuclear gene mutations leading to defects in the respiratory chain or fatty acid oxidation.