Also Known As
COX deficiency, French-Canadian typeLeigh syndrome, French-Canadian typeLeigh syndrome, Saguenay-Lac-Saint-Jean typeSLSJ-COX deficiencycongenital lactic acidosis, Saguenay-Lac-Saint-Jean typecytochrome C oxidase deficiency, French-Canadian typecytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean typemitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)Cox deficiency, French Canadian typeCox deficiency, Saguenay Lac saint Jean typeCox deficiency, Saguenay-Lac-Saint-Jean typeLSFCLeigh syndrome, French Canadian typeLeigh syndrome, Saguenay Lac saint Jean typecytochrome C oxidase deficiency, French Canadian 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.