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branched-chain keto acid dehydrogenase kinase deficiency
Summary
- Synonym
-
- BCKDK deficiency
- BCKDKD
- autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- Definition
- An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0090126
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
