Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
What is Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type?
Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a 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
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