Conditions / Genetic
nuclear type mitochondrial complex I deficiency 34
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3.
Signs and symptoms
- Lactic acidosis
- Abnormal diffusion weighted cerebral MRI morphology
- Seizure
- Decreased activity of mitochondrial complex I
- Feeding difficulties in infancy
- Optic atrophy
- Optic disc pallor
- Metabolic acidosis
- Respiratory failure requiring assisted ventilation
- Hypsarrhythmia
Also known as: MC1DN34