Conditions / Genetic
nuclear type mitochondrial complex I deficiency 4
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2.
Signs and symptoms
- Hypotonia
- Myoclonic seizure
- Brain atrophy
- Blindness
- Increased circulating pyruvate concentration
- Increased CSF lactate
- Decreased activity of mitochondrial complex I
- Strabismus
- Vomiting
- Developmental regression
Also known as: MC1DN4