nuclear type mitochondrial complex I deficiency 26

info · Genetic

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32.

Signs and symptoms

Cerebral atrophy
Hearing impairment
Choreoathetosis
Dystonia
Cerebellar atrophy
Increased circulating lactate concentration
Elevated lactate:pyruvate ratio
Respiratory insufficiency
Decreased activity of mitochondrial complex I
Reduced cerebral white matter volume

Also known as: MC1DN26