Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This …

Several conditions, especially chronic liver diseases, can lead to cirrhosis in children and
adolescents. Most cases in clinical practice are caused by similar etiologies. In infants …

Neonatal acute liver failure (NALF) is a rare disease about which there is little published
data; however, NALF is an extremely important condition as it is distinct from acute liver …

The recognition of a pattern of steatotic liver injury where histology mimicked alcoholic liver
disease, but alcohol consumption was denied, led to the identification of non-alcoholic fatty …

Mitochondrial electron transport chain (ETC) dysfunction due to mutations in the nuclear or
mitochondrial genome is a common cause of metabolic disease in humans and displays …

Important nomenclature changes for steatohepatitis (SH) have recently arisen to
systematically identify patient populations within appropriate categories of disease etiology …

Objectives To assess the accuracy of blood lactate and lactate: pyruvate molar ratio (L: P) as
a screen for mitochondrial, respiratory chain, or fatty acid oxidation disorders in children with …

Background: Mitochondrial liver disease (MLD), and in particular mitochondrial DNA
(mtDNA) depletion syndrome (MDS) is an important cause of acute liver failure (ALF) in …

Mitochondrial DNA depletion syndromes (MDDS) are a heterogeneous group and the
hepato‐cerebral phenotype is highly variable. A single centre retrospective study of all …

The liver is the largest solid organ in a human body comprising w2% of the bodyweight, and
uniquely receiving blood supply from two sources: the portal vein (w75%) and hepatic artery …