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.
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
- Motor issues
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.
Research Article Summaries