1.7

Nuclear-encoded disorders of oxidative phosphorylation

This group of disorders includes deficiencies of subunits and assembly factors of the five oxidative phosphorylation complexes (found in the inner mitochondrial membrane) whose encoding genes are located in the nuclear DNA. This defects are generally associated with deficiencies of single enzyme complexes in the affected tissues and they can disrupting the oxidative phosphorylation pathway.

The clinical manifestations of these disorders are highly variable and can include symptoms such ar weakness, exercise intolerance, neurological deficits, lactic acidosis, and multi-organ failure.

1.7.a

Disorders of complex I subunits and assembly factors

NADH dehydrogenase flavoprotein 1 deficiency NADH dehydrogenase flavoprotein 2 deficiency…
1.7.b

Disorders of complex II subunits and assembly factors

Succinate dehydrogenase subunit A deficiency Succinate dehydrogenase subunit A deficiency,…
1.7.c

Disorders of complex III subunits and assembly factors

UQCRFS1 deficiency UQCRB deficiency UQCRC2 deficiency UQCRQ deficiency UQCC2 deficiency…
1.7.d

Disorders of complex IV subunits and assembly factors

Cytochrome c oxidase subunit 4I1 deficiency Cytochrome c oxidase subunit…
1.7.e

Disorders of complex V subunits and assembly factors

Mitochondrial ATP synthase F1 subunit alpha deficiency Mitochondrial ATP synthase…

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