1.08

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.

1.08.a

Disorders of coenzyme Q10 biosynthesis

This section covers rare inherited disorders of coenzyme Q10 (ubiquinone)…
1.08.b

Disorders of lipoic acid and iron-sulfur metabolism

This section covers rare inherited disorders of lipoic acid and…
1.08.c

Disorders of mitochondrial cytochrome c biosynthesis

This section covers disorders of mitochondrial cytochrome c biosynthesis, including…

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