Mitochondrial complex I deficiency, caused by mutations in FOXRED1 gene, is an autosomal recessive disorder that can cause a variety of signs and symptoms affecting many organs and systems of the body, particularly the heart, the nervous system, and the muscles used for movement. Vision problems can also occur due to abnormal eye movement or involvement of the nerves carrying signals from the eyes to the brain.
Sometimes patients with mitochondrial complex I deficiency have groups of signs and symptoms that are classified as a specific syndrome, such as Leigh syndrome, characterized by developmental or psychomotor regression.
The clinical symptoms that arise can appear at anytime from birth to adulthood, and are usually highly heterogeneous, with a poor prognosis, and rapid progression. To date, only seven patients with mitochondrial Complex I deficiency due to mutations in FOXRED1 have been described.
FOXRED1