branched-chain keto acid dehydrogenase kinase deficiency
ORPHA: 308410
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:308410branched-chain keto acid dehydrogenase kinase deficiency
| Orphanet | ORPHA:308410 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO