Biology:Branched-chain keto acid dehydrogenase kinase deficiency
From HandWiki
Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids. This results in delayed brain development, which may present as intellectual disability and autism spectrum disorder. Patients may suffer from epileptic seizures.
Treatment
Continuous replenishment of BCAA levels has been reported to alleviate the symptoms in patients.
History
The disease was first described in 2012 in three unrelated families.[1]
External links
- Branched-chain keto acid dehydrogenase kinase deficiency - a record in OMIM
References
- ↑ "Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy". Science 338 (6105): 394–7. October 2012. doi:10.1126/science.1224631. PMID 22956686.
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