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

*Soruce

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No additional description.

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

Description of the disease *

Extended description of the disease