Disease

branched-chain keto acid 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.

Synonyms

autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
BCKDK deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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