x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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: E88.8
  • OMIM: 220111
  • UMLS: C1857355
  • MeSH: -
  • GARD: 8370
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.