In the past, gout has been a disease that was caricatured as a comical condition caused by high fat foods and large amounts of wine. However, researchers have recently found that although certain foods and proteins can trigger a flare up, the underlying cause of gout may be related to the lack of specific enzymes needed to metabolize proteins. Symptoms of gout, which often appear in one or two joints, may include inflammation, redness, swelling and fever. A flare up, which may last 3 to 10 days, usually resolves on its own.
Purines
These are a class of compounds that are a waste product of metabolism that causes gout. Different pathways of metabolism will help make them, convert them, reuse them and dispose of purines in the body, according to Purine Research Society. When enzymes required for each of these pathways are either deficient or have increased activity, it can increase the amount of uric acid crystals in the body. These crystals can get deposited inside joints and cause the inflammation and swelling known as gout.
5'-Phosphoribosyl-1'-Pyrophosphate Synthetase
5'-phosphoribosyl-1'-pyrophosphate synthetase is is one of the three known enzyme abnormalities that can cause gout, according to The Medical Biochemistry Page. This is the enzyme responsible for the creation of purine. It is a complex process that requires the combined efforts of three identified genes. All three produce different effects and characteristics in the body. Mutations of these genes can drive superactivity of the enzyme that in turn produces an excess level of purines. The metabolism of these purines results in hyperuricemic acid production and the deposits of crystals in the joints. According to Merck Manuals Online Medical Library, this is an X-linked recessive disorder. This means that it is a genetic disorder and thus is passed from parent to child, although both parents must carry the recessive gene in order for the condition to be expressed in the child.
Hypoxanthine Phosphoribosyltransferase 1
Hypoxanthine phosphoribosyltransferase 1 is an enzyme that recycles purines in the body to ensure there is an adequate supply of these building blocks for DNA, according to Genetics Home Reference. There are over 200 different mutations of the gene that drives the production of this enzyme. The mutations result in an enzyme that is either non-functional or produced minimally. Under these conditions uric acid, the byproduct of the metabolism of purine, will accumulate and cause gout.
Adenine Phosphoribosyltransferase Deficiency
This is a deficiency in the adenine phosphoribosyltransferase enzyme that causes an accumulation of 2,8 dihydroxyadenine, according to Purine Research Society. In many cases you may not suffer any symptoms at all and it could be discovered accidentally during other medical testing. Sometimes, these compounds will accumulate and crystallize in the joint spaces the way that uric acid does. This causes a gout-like condition for which there is no effective known treatment. You may find that reducing the amount of purines in your diet will help reduce the amount of crystal formation and therefore reduce symptoms and pain.
