Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early
childhood. It is clinically diagnosed by typical manifestations and characteristic computed …

Pentatricopeptide repeat domain proteins are a large family of RNA-binding proteins
involved in mitochondrial RNA editing, stability, and translation. Mitochondrial translation …

Background Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease
caused by defects in mitochondrial DNA maintenance and leads to liver failure and …

Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new
therapeutic options being proposed, assessing the mortality and clinical condition of Leigh …

Background Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with
mitochondrial disease. However, other risk factors including genetic factors related to poor …

Mitochondrial respiratory chain complexes II, III, and IV and cytochrome c contain haem,
which is generated by the insertion of Fe2+ into protoporphyrin IX. 5-Aminolevulinic acid …

Objective Neonatal-onset mitochondrial disease has not been fully characterised owing to
its heterogeneity. We analysed neonatal-onset mitochondrial disease in Japan to clarify its …

Background ECHS1 is a key enzyme of the valine catabolic pathway and oxidation of fatty
acids. In ECHS1 deficiency (ECHS1D), accumulation of toxic intermediates from the valine …

Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid
catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced …

Approximately 80% of rare diseases have a genetic cause, and an accurate genetic
diagnosis is necessary for disease management, prognosis prediction, and genetic …