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