Living with Branched-chain keto acid dehydrogenase kinase deficiency
A rare genetic condition of amino acid use that causes childhood seizures, autism, and intellectual disability.
Understanding Branched-chain keto acid dehydrogenase kinase deficiency
It causes epilepsy, autism, and intellectual disability starting in childhood. Blood levels of branched-chain amino acids are low.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Autism and behavior changes
- Intellectual disability
- Small head (microcephaly)
- Delays in language and movement
- Loss of skills (regression)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in BCKDK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the BCKDK gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; bckdk deficiency; bckdkd
Patient organizations
- Simons SearchlightBranched-chain keto acid dehydrogenase kinase deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Branched-chain keto acid dehydrogenase kinase deficiency.
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