| Metadata | |
|---|---|
| ID | DOID:0090126 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/24449431, https://www.omim.org/entry/614901 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [EXACT] BCKDK deficiency [EXACT] BCKDKD [EXACT] |
| Parent Relationships |