Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
What is Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type?
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
Other condition names
- COX deficiency, French-Canadian type
- Cytochrome C oxidase deficiency, French-Canadian type
- Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
- Leigh syndrome, French-Canadian type
- Leigh syndrome, Saguenay-Lac-Saint-Jean type
- SLSJ-COX deficiency
Inheritance type
Autosomal recessive
Age of Onset
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.