Conditions / Genetic
branched-chain keto acid dehydrogenase kinase deficiency
info · Genetic · ICD-10: E71.1
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 (BCKD
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.
Signs and symptoms
- Language impairment
- Cataract
- Intellectual disability
- Global developmental delay
- Simple febrile seizure
- Motor delay
- Hypoleucinemia
- Hypovalinemia
- Decreased CSF isoleucine concentration
- Decreased CSF valine concentration
Also known as: BCKDK deficiency; BCKDKD; autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency