Conditions / Genetic
nuclear type mitochondrial complex I deficiency 32
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31.
Signs and symptoms
- Global developmental delay
- Increased circulating lactate concentration
- Generalized hypotonia
- Increased CSF lactate
- Decreased activity of mitochondrial complex I
- Metabolic acidosis
- Skeletal muscle atrophy
- Cerebral atrophy
- Vomiting
- Seizure
Also known as: MC1DN32