Conditions / Genetic
mitochondrial complex III deficiency nuclear type 9
info · Genetic
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12.
Signs and symptoms
- Periventricular cysts
- Hypermetropia
- Feeding difficulties
- Decreased activity of mitochondrial complex III
- Sleep disturbance
- Increased circulating lactate concentration
- Hypotonia
- Global developmental delay
- Increased CSF lactate
- Elevated lactate:pyruvate ratio