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General Information
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| Term |
branched-chain keto acid dehydrogenase kinase deficiency |
ID (Ontology) |
DOID:0090126 (Human Disease) |
| 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. |
| Also Known As |
"autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" ; "BCKDK deficiency" ; "BCKDKD" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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branched-chain keto acid dehydrogenase kinase deficiency | 1 | for disease ribbon | branched-chain keto acid dehydrogenase kinase deficiency | 1 | model of | branched-chain keto acid dehydrogenase kinase deficiency | 1 |
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Relationships