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Branched-chain keto acid dehydrogenase kinase deficiency
rareA 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.
- Identifiers
- MONDO:0013970 OMIM:614923Orphanet:308410
- Causal genes
- BCKDK
- Also known as
- autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency · BCKDK deficiency · BCKDKD
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