Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum
of mutations in genes encoded by either the nuclear or the mitochondrial genome …

Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty
acids and is essential for maintaining energy homeostasis in the human body. Fatty acids …

For more than 45 years, Muscle Biopsy: A Practical Approach has offered, comprehensive,
clinically-focused coverage of the acquisition, interpretation, and assessment of muscle …

As an essential vitamin, the role of riboflavin in human diet and health is increasingly being
highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and …

Complex I (NADH: ubiquinone oxidoreductase) is the largest multimeric enzyme complex of
the mitochondrial respiratory chain, which is responsible for electron transport and the …

Mitochondrial complex I is the primary entry point for electrons into the electron transport
chain, required for the bulk of cellular ATP production via oxidative phosphorylation …

Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood,
accounting for up to 30% of cases. As with many mitochondrial disorders, complex I …

Seizures are often the key manifestation of neurological diseases caused by pathogenic
mutations in 169 of the genes that have so far been identified to affect mitochondrial …

Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy
or early childhood. However, also late-onset cases have been reported. Since its first …