Conditions / Genetic
nuclear type mitochondrial complex I deficiency 22
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3.
Signs and symptoms
- Poor head control
- Global developmental delay
- Hypotonia
- Increased CSF lactate
- Elevated lactate:pyruvate ratio
- Respiratory insufficiency
- Decreased activity of mitochondrial complex I
- Hypertrophic cardiomyopathy
- Fetal distress
- Lactic acidosis
Also known as: MC1DN22