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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.
Often, mutations in the BCKDK gene occur creating the deviation in BCKD behavior. Exceedingly high BCKD complex activity increases branched-chain amino acid catabolism and protein degradation in skeletal muscle, which is a distinctive feature for cachexia.
Mutations of the BCKDK gene, whose protein product controls the activity of the complex, may result in over-activation of the complex and excessive catabolism of the three amino acids. This leads to branched-chain keto acid dehydrogenase kinase deficiency , a rare disease first described in humans in 2012.
Those amino acids being leucine, isoleucine, and valine. The BCKD enzyme complex can be found in the mitochondria, an organelle known as the powerhouse of the cell. All three amino acids can be found in protein-rich foods and when broken down, they can be used for energy. Mutations in the BCKDHA gene can lead to maple syrup urine disease. [10]
Meguid discovered mutations in the gene Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK). [7] Mutations found in BCKDK were found in consanguineous families with epilepsy, autism, and intellectual disabilities. Previously, the BCKDK was known to cause Maple Syrup Urine disease (MSUD). Mutations in this gene could potentially treat autism ...
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The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2), and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B.
Bored Panda has tracked down a bunch of photos of animals who aren’t letting genetic mutations stand in their way. From four-eared cats to two-headed tortoises, these cute creatures are rocking ...