BCKDK
The information for this summary of BCKDK-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full BCKDK Gene Guide
The online Gene Guide includes more information about BCKDK such as the chance of having another child with this condition, behavior and development concerns linked to BCKDK-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
BCKDK-related syndrome is also called branched-chain keto acid dehydrogenase kinase deficiency. For this webpage, we will be using the name BCKDK-related syndrome to encompass the wide range of variants observed in the people identified.
What is BCKDK-related syndrome?
BCKDK-related syndrome happens when there are changes in the BCKDK gene. These changes can keep the gene from working as it should.
Key Role
The BCKDK gene is important for mitochondria, which produce the energy that cells need to do work. This gene is also important for processing some amino acids in the body, which helps cells to function properly.
Symptoms
Because the BCKDK gene is important for brain activity, many people who have BCKDK-related syndrome have:
- Developmental delay
- Intellectual disability
- Autism
- Motor issues
- Seizures
- Language issues
- Behavioral issues
How many people have BCKDK-related syndrome?
As of 2024, at least 27 people with BCKDK-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – BCKDK Facebook group
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
There is currently no GeneReviews for BCKDK.
Research Article Summaries
We currently do not have any article summaries for BCKDK, but we add resources to our website as they become available.
The information available about BCKDK is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for BCKDK articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about BCKDK genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from BCKDK families.
Click here to share your family’s story!