Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
ORPHA:308410· ICD-10 E71.1
Definition
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood