Gene Association: BCKDK
UniProt Search:
BCKDK (PROTEIN_CODING)
Function Description: branched chain keto acid dehydrogenase kinase
found 8 associated metabolites with current gene based on the text mining result from the pubmed database.
Pyridoxamine 5'-phosphate
Pyridoxamine 5-phosphate belongs to the class of organic compounds known as pyridoxamine 5-phosphates. These are heterocyclic aromatic compounds containing a pyridoxamine that carries a phosphate group at the 5-position. Vitamin B6 is a water-soluble compound that was discovered in 1930s during nutrition studies on rats. The vitamin was named pyridoxine to indicate its structural homology to pyridine. Later it was shown that vitamin B6 could exist in two other, slightly different, chemical forms, termed pyridoxal and pyridoxamine. All three forms of vitamin B6 are precursors of an activated compound known as pyridoxal 5-phosphate (PLP), which plays a vital role as the cofactor of a large number of essential enzymes in the human body. Vitamin B6 is a water-soluble vitamin. The three major forms of vitamin B6 are pyridoxine (also known as pyridoxol), pyridoxal, and pyridoxamine, which are all converted in the liver to pyridoxal 5-phosphate (PLP) a cofactor in many reactions of amino acid metabolism. PLP also is necessary for the enzymatic reaction governing the release of glucose from glycogen. Vitamin B6 is a water-soluble compound that was discovered in 1930s during nutrition studies on rats. The vitamin was named pyridoxine to indicate its structural homology to pyridine. Later it was shown that vitamin B6 could exist in two other, slightly different, chemical forms, termed pyridoxal and pyridoxamine. All three forms of vitamin B6 are precursors of an activated compound known as pyridoxal 5-phosphate (PLP), which plays a vital role as the cofactor of a large number of essential enzymes in the human body. KEIO_ID P113; [MS3] KO009146 KEIO_ID P113; [MS2] KO009143 KEIO_ID P113
alpha-Ketoisovaleric acid
alpha-Ketoisovaleric acid is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids. alpha-Ketoisovaleric acid is a neurotoxin, an acidogen, and a metabotoxin. A neurotoxin causes damage to nerve cells and nerve tissues. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of alpha-ketoisovaleric acid are associated with maple syrup urine disease. MSUD is a metabolic disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. The symptoms of MSUD often show in infancy and lead to severe brain damage if untreated. MSUD may also present later depending on the severity of the disease. If left untreated in older individuals, during times of metabolic crisis, symptoms of the condition include uncharacteristically inappropriate, extreme, or erratic behaviour and moods, hallucinations, anorexia, weight loss, anemia, diarrhea, vomiting, dehydration, lethargy, oscillating hypertonia and hypotonia, ataxia, seizures, hypoglycemia, ketoacidosis, opisthotonus, pancreatitis, rapid neurological decline, and coma. In maple syrup urine disease, the brain concentration of branched-chain ketoacids can increase 10- to 20-fold. This leads to a depletion of glutamate and a consequent reduction in the concentration of brain glutamine, aspartate, alanine, and other amino acids. The result is a compromise of energy metabolism because of a failure of the malate-aspartate shuttle and a diminished rate of protein synthesis (PMID: 15930465). alpha-Ketoisovaleric acid is a keto-acid, which is a subclass of organic acids. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart, liver, and kidney abnormalities, seizures, coma, and possibly death. These are also the characteristic symptoms of untreated MSUD. Many affected children with organic acidemias experience intellectual disability or delayed development. Flavouring ingredient for use in butter-type flavours. Found in banana, bread, cheeses, asparagus, beer and cocoa KEIO_ID M006 3-Methyl-2-oxobutanoic acid is a precursor of pantothenic acid in Escherichia coli.
3-Hydroxyisobutyric acid
A 4-carbon, branched hydroxy fatty acid and intermediate in the metabolism of valine. 3-Hydroxyisobutyric acid is an important interorgan metabolite, an intermediate in the pathways of l-valine and thymine and a good gluconeogenic substrate.
TG(8:0/8:0/8:0)
TG(8:0/8:0/8:0) belongs to the family of triradyglycerols, which are glycerolipids lipids containing a common glycerol backbone to which at least one fatty acyl group is esterified. Their general formula is [R1]OCC(CO[R2])O[R3]. TG(8:0/8:0/8:0) is made up of one octanoyl(R1), one octanoyl(R2), and one octanoyl(R3). It is used in bakery products. Carrier for essential oils and flavours. Glycerol trioctanoate is found in cereals and cereal products. D010592 - Pharmaceutic Aids > D014677 - Pharmaceutical Vehicles > D005079 - Excipients Same as: D01587 Tricaprilin (Trioctanoin) is used in study for patients with mild to moderate Alzheimer's disease and has a role as an anticonvulsant and a plant metabolite[1][2].
Ketovaline
3-Methyl-2-oxobutanoic acid is a precursor of pantothenic acid in Escherichia coli.
α-Ketoisovaleric acid
A 2-oxo monocarboxylic acid that is the 2-oxo derivative of isovaleric acid. 3-Methyl-2-oxobutanoic acid is a precursor of pantothenic acid in Escherichia coli.
Tricaprilin
D010592 - Pharmaceutic Aids > D014677 - Pharmaceutical Vehicles > D005079 - Excipients Same as: D01587 Tricaprilin (Trioctanoin) is used in study for patients with mild to moderate Alzheimer's disease and has a role as an anticonvulsant and a plant metabolite[1][2].
pyridoxamine phosphate
A vitamin B6 phosphate that is the phosphoric ester derivative of pyridoxamine.
