Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Orpha code: 308410OMIM code: 614923

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.

Disease data
Classification

Disease

ORPHA code
308410
OMIM code
614923
ICD10 code
E71.1
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl