Below is a summary for the BCKDK gene observed in research publications. This is not meant to take the place of medical advice.

What is branched-chain keto acid dehydrogenase kinase deficiency?

Branched-chain keto acid dehydrogenase kinase deficiency happens when there are changes in both copies of the BCKDK gene. These changes can keep the gene from working as it should.

Key Role

The BCKDK gene is important for mitochondria, which are the powerhouse of the cell. This gene is also important for processing some amino acids in the body, an important role in helping cells make functional units correctly.


Because the BCKDK gene is important for cells in the brain, many people may have:

  • Developmental delay
  • Intellectual disability
  • Autism
  • Motor issues
  • Seizures

Do people who have branched-chain keto acid dehydrogenase kinase deficiency look different?

Most people who have a BCKDK genetic variant do not look very different. Some people have a small head size.

How many people have branched-chain keto acid dehydrogenase kinase deficiency?

Branched-chain keto acid dehydrogenase kinase deficiency is very rare. As of 2022, about 6 people in the world with this condition have been described in medical research.


Support Resources



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.

Check out the 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!