ORPHA:506
Leigh syndrome
Also called Infantile subacute necrotizing encephalopathy, Leigh disease
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Typical age of onset
- All ages
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:506 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Increased circulating lactate concentration
- Increased CSF lactate
- Lactic acidosis
- Lacticaciduria
- Floppy infant
- Abnormal enzyme/coenzyme activity