Conditions / Genetic
French Canadian Leigh disease
info · Genetic
A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_ma
A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
Signs and symptoms
- Global developmental delay
- Increased circulating lactate concentration
- Lactic acidosis
- Increased CSF lactate
- Decreased activity of mitochondrial complex IV
- Feeding difficulties
- Strabismus
- Hypotonia
- Ataxia
- Hyperglycemia
Also known as: French Canadian type COX deficiency; French Canadian type Leigh syndrome; French Canadian type cytochrome c oxidase deficiency; Saguenay Lac saint Jean type COX deficiency; Saguenay Lac saint Jean type Leigh syndrome