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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]
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.
[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 ...
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]
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
This regulation is relaxed in response to caloric restriction and low blood glucose. Under these circumstances, glutamate dehydrogenase activity is raised in order to increase the amount of α-ketoglutarate produced, which can be used to provide energy by being used in the citric acid cycle to ultimately produce ATP. [citation needed]