Very rare. Deficit of the complex V of the respiratory chain.

There are forms due to a nuclear mutation:

-        MC5DN1 (Mitochondrial C5 Deficiency Nuclear complex type 1) [MIM 604 273]: mutation of the ATPAP2 gene on 17p11.2

-        MC5DN2 (Mitochondrial C5 Deficiency Nuclear complex type 2) [MIM 614 052]: mutation of the TMEM70 gene on 8q21

-        MC5DN3 (Mitochondrial C5 Deficiency Nuclear complex type 3) [MIM 614 053]: mutation of ATP5E gene on 20q13.32

-        MC5DN4 (Mitochondrial C5 Deficiency Nuclear complex type 4) [MIM 615 028]: mutation of the ATP5A1 gene  on 18q

and those due to a mitochondrial DNA mutation:

-        MTAP6: [MIM 561 060] MTATP6 gene mutation

-        MTAP8: [MIM 516 070] MTATP8 gene mutation.

Clinical presentation:

-        neonatal hypotonia

-        lactic acidosis, liver, hepatomegaly

-        hypertrophic cardiomyopathy

-        3-methylglutaconic aciduria type 4 (see this term)

-        early death

Anesthetic implications:

management of a mitochondrial cytopathy (see this term)

References :

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Updated: July 2017