Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Definition
Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
Also known as congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, 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, mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), SLSJ-COX deficiency — per MONDO