Conditions / Genetic
nuclear type mitochondrial complex I deficiency 5
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.
Signs and symptoms
- Hypotonia
- Increased circulating lactate concentration
- Increased CSF lactate
- Decreased activity of mitochondrial complex I
- Strabismus
- Ataxia
- Metabolic acidosis
- Ptosis
- Lethargy
- Poor speech
Also known as: MC1DN5