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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