Catalog

Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency

No MMS code

Link to WHO Definition

Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency – http://id.who.int/icd/entity/820983487

Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.