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Hyperlysinemia has an autosomal recessive pattern of inheritance. Hyperlysinemia is inherited in an autosomal recessive manner. [2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
"Ketoglutaric acid" and "ketoglutarate", when not qualified as α or β, almost always refers respectively to α-ketoglutaric acid or α-ketoglutarate. [2] α-Ketoglutarate is an intermediate in the citric acid cycle, a cycle that supplies the energy to cells. [2] It is also an intermediate in or product of several other metabolic pathways.
Lysyl hydroxylases (or procollagen-lysine 5-dioxygenases) are alpha-ketoglutarate-dependent hydroxylases enzymes that catalyze the hydroxylation of lysine to hydroxylysine. [ 1 ] [ 2 ] Lysyl hydroxylases require iron and vitamin C as cofactors for their oxidation activity.
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 .
Procollagen-proline dioxygenase, commonly known as prolyl hydroxylase, is a member of the class of enzymes known as alpha-ketoglutarate-dependent hydroxylases.These enzymes catalyze the incorporation of oxygen into organic substrates through a mechanism that requires alpha-Ketoglutaric acid, Fe 2+, and ascorbate.
alpha-ketoglutaric acid, a 5-carbon ketoacid derived from glutamic acid. Alpha-ketoglutarate participates in cell signaling by functioning as a coenzyme. [6] It is commonly used in transamination reactions. Beta-keto acids, beta-ketoacids, or 3-oxoacids, such as acetoacetic acid, have the ketone group at the second carbon from the carboxylic acid.
The National Academy of Medicine recommends that adults get 1.1 to 1.6 grams of omega-3s per day to ensure nutritional adequacy. “Aim for two servings of fatty fish (8 to 12 ounces) each week ...
[citation needed] In women with mild cases, elevated blood pressure and/or infertility is the presenting clinical problem. 17α-hydroxylase deficiency in genetic males results in moderate to severe reduction of fetal testosterone production by adrenal glands and testes. Undervirilization is variable and sometimes complete.