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α-Ketoglutarate is a component of the citric acid cycle, a cyclical metabolic pathway located in the mitochondria.This cycle supplies the energy that cells need by sequentially metabolizing (indicated by →) citrate through seven intermediate metabolites and then converting the eighth intermediate metabolite, oxaloacetate, back to citrate: [2]
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.
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]
[1] [2] In these situations they decrease the need for blood transfusions. [2] The different agents are more or less equivalent. [2] They are given by injection. [2] Common side effects may include joint pain, rash, vomiting, and headache. [4] Serious side effects may include heart attacks, stroke, increased cancer growth, or pure red cell ...
Calcium-alpha-ketoglutarate (C 5 H 4 CaO 5 •H 2 O) is a special form mineral calcium that can be used to restore calcium concentration level in the blood back to normal. Calcium-alpha-ketoglutarate binds excess phosphate and pass it as a waste, re-establishing normal balance of calcium and phosphate in the body.
Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder that affects the body's ability to metabolize amino acids due to a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. [3] It particularly affects the metabolism of amino acids—leucine, isoleucine, and valine. [4]
Alpha-aminoadipic semialdehyde synthase is encoded for by the AASS gene, and mutations in this gene lead to hyperlysinemia. [5] [7] This is characterized by impaired breakdown of lysine which results in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body. [8]
The disease results from a deficiency in hepatic tyrosine aminotransferase. [10] Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels. [10]