Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

Autism spectrum disorder (ASD) affects~ 2% of children in the United States. The etiology of
ASD likely involves environmental factors triggering physiological abnormalities in …

Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

The purpose of this overview is to increase the awareness of clinicians regarding the clinical
characteristics of primary mitochondrial disorders, their diagnosis, and management, and to …

Primary mitochondrial diseases are relatively common inborn errors of energy metabolism,
with a combined prevalence of 1 in 4300. These disorders typically affect tissues with high …

Butyrate (BT) is a ubiquitous short-chain fatty acid (SCFA) principally derived from the
enteric microbiome. BT positively modulates mitochondrial function, including enhancing …

Patients with single large-scale mitochondrial DNA (mtDNA) deletion syndromes (SLSMDs)
usually present with multisystemic disease, either as Pearson syndrome in early childhood …

Primary mitochondrial disease (PMD) is a group of complex genetic disorders that arise due
to pathogenic variants in nuclear or mitochondrial genomes. Although PMD is one of the …