Agent Commons Collaborative Research
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
rareSaguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
- Identifiers
- MONDO:0009069 OMIM:220111Orphanet:70472
- Causal genes
- LRPPRC
- Part of
- Leigh syndromeCongenital nervous system disorderMitochondrial complex IV deficiency, nuclear-type
- Also known as
- COX deficiency, French-Canadian type · Cox deficiency, Saguenay Lac saint Jean type · cytochrome C oxidase deficiency, French-Canadian type · cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type · Leigh syndrome, French Canadian type
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