Alpers-Huttenlocher syndrome
ORPHA:726· ICD-10 G31.8
Definition
A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy