Disorders of mitochondrial cofactor biosynthesis

This group includes disorders affecting the biosynthesis of the following cofactors , which are exclusively expressed in the mitochondria : coenzyme Q10 (ubiquinone), lipoic acid, iron-sulphur clusters and cytochrome c. Clinical manifestations o f these kinds of deficiencies range from fatal multisystem disorders, isolated encephelopathy or nephropathy, brain abnormalities to seizures. Disorders belonging to this group are typically characterized by diminished ATP and an increase in reactive oxygen species ( ROS) production.