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

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 …

Nitric oxide (NO) is synthesized from arginine and O2 by nitric oxide synthase (NOS).
Citrulline, which is formed as a by-product of the NOS reaction, can be recycled to arginine …

The etiology of secretory diarrhea in early life is often unclear. We report a Japanese boy
who survived until 3 years of age, despite intractable diarrhea commencing soon after birth …

Background Although mitochondrial respiratory chain disorders (MRCD) are one of the most
common congenital metabolic diseases, there is no cumulative data on enzymatic diagnosis …

The detoxification of ammonia to urea requires a functional hepatic urea cycle, which
consists of six enzymes and two mitochondrial membrane transporters. The initial step of the …