Disorders of Purine and Pyrimidine metabolism

This is a group of diseases with neurological, metabolic or immunohematological manifestations, which manifests itself in children and adults.

One of the main causes of these diseases are genetically determined changes in the activity of enzymes. If the activity of the enzyme is reduced or zero, a metabolic block occurs, which leads to the abnormal accumulation of physiological or atypical metabolites in tissues or body fluids and thus leads to damage to the organism. This impairment may also induce increased activity of the enzyme in question, leading to accumulation of metabolites. How the metabolite damages the target organ is currently unknown, so it cannot be effectively intervened in therapy. Targeted treatment is not known especially for effects that damage the CNS.

Most of these diseases have an autosomal recessive mode of inheritance. Only in two diseases is the type of inheritance gonosomally recessive, namely in the defect of HGPRT and PRPP synthase. One of the most common manifestations of purine metabolism disorders is gout, which is defined as a clinical syndrome. More precisely, it is referred to as gouty syndrome, where clinical symptoms only appear in adulthood as painful swelling of the joints. These crystals are released into the joint cavity, where inflammation occurs as a reaction to the IgG coated crystals. This causes the release of inflammatory mediators such as prostaglandins, kinins, histamine. The process is manifested by swelling, redness and great joint pain.