Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
ORPHA:70472· ICD-10 G31.8
Definition
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal