1.07

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.

1.07.a

Disorders of complex I subunits and assembly factors

This section covers rare inherited disorders of oxidative phosphorylation complex…
1.07.b

Disorders of complex II subunits and assembly factors

This section covers rare inherited disorders of oxidative phosphorylation complex…
1.07.c

Disorders of complex III subunits and assembly factors

This section covers rare inherited disorders of oxidative phosphorylation complex…
1.07.d

Disorders of complex IV subunits and assembly factors

This section covers rare inherited disorders of oxidative phosphorylation complex…
1.07.e

Disorders of complex V subunits and assembly factors

This section covers rare inherited disorders of oxidative phosphorylation complex…

Hey, want to upgrade to pro plan?

18748

Upgrade Now

& get 25% off

Offer valid only for 24 hrs.

18749
Scroll to Top