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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.
A deficiency of this complex leads to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products in the blood and urine, giving the condition the name maple syrup urine disease. On the other hand, unchecked activity of this complex causes branched-chain keto acid dehydrogenase kinase deficiency.
A deficiency in any of the enzymes of this complex as well as an inhibition of the complex as a whole leads to a buildup of branched-chain amino acids and their harmful derivatives in the body. These accumulations lend a sweet smell to bodily excretions (such as ear wax and urine), leading to a pathology known as maple syrup urine disease. [19]
BCKDK regulates the activity of branched-chain α-ketoacid dehydrogenase complex (BCKD) through phosphorylation and inactivation. This inactivation results in increased branched-chain amino acids (BCAA), which is seen to reduce oxidative stress; however, having too much BCAA has been proven to be toxic to humans. Therefore, BCKDK is a vital ...
Due to the disturbed branched-chain amino acids (BCAA) metabolism, they are among the classical organic acidemias. [ 2 ] Methylmalonic acidemias have varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder.
Isovaleric acidemia is a rare autosomal recessive [2] metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine. It is a classical type of organic acidemia .
The branched-chain amino acids include isoleucine, leucine and valine. [1] Organic acids refer to the amino acids and certain odd-chained fatty acids which are affected by these disorders. The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. [1]
Specifically restricting consumption of the three branched-chain amino acids leucine, isoleucine and valine is sufficient to promote leanness and improve regulation of blood glucose. [16] A recent randomized-controlled clinical trial showed that protein restriction (PR) improves multiple markers of metabolic health, such as reducing adiposity ...