1.8

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.

1.8.a

Disorders of coenzyme Q10 biosynthesis

Prenyl diphosphate synthase subunit 1 deficiency (Primary coenzyme Q10 deficiency type…
1.8.b

Disorders of lipoic acid and iron-sulfur metabolism

Lipoyltransferase 2 deficiency (Neonatal severe encephalopathy with lactic acidosis and…
1.8.c

Disorders of mitochondrial cytochrome c biosynthesis

Mitochondrial cytochrome c deficiency (Thrombocytopenia type 4)

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