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Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Disease definition

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.

ORPHA:70472

Classification level: Disorder
  • Synonym(s):
    • 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
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G31.8
  • OMIM: 220111  619065
  • UMLS: C1857355
  • MeSH: -
  • GARD: 8370
  • MedDRA: -

Detailed information

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