branched-chain keto acid dehydrogenase kinase deficiency (Q30990099)
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autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has material basis in homozygous mutation in the BCKDK gene on chromosome 16p11
- BCKDKD
- autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- BCKDK deficiency
- BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD
- BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
- Branched-chain keto acid dehydrogenase kinase deficiency
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | branched-chain keto acid dehydrogenase kinase deficiency |
autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has material basis in homozygous mutation in the BCKDK gene on chromosome 16p11 |
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