The Kunkel-Wetzel test is a laboratory diagnostic method used to identify hereditary metabolic disorders.
The sample is named after the two scientists who developed it - American biochemist N.G. Kunkel and the German anatomist G. Wetzel.
The essence of the method is to study the characteristics of protein synthesis in skin cells. To do this, a small piece of skin is taken, which is then placed in a nutrient medium containing a radioactive amino acid.
Normally, skin cells actively incorporate the labeled amino acid into synthesized proteins. In hereditary metabolic disorders, this process is disrupted. By analyzing the intensity of the inclusion of radioactive labels in cell proteins, we can conclude about the presence of a particular disease.
The Kunkel-Wetzel test is a highly sensitive method for screening hereditary metabolic diseases. It is widely used for the diagnosis of phenylketonuria, cystic fibrosis, Tay-Sachs disease and other diseases.
The Kunkel-Wetzel test is a type of nonspecific method. To carry it out, a specific chemical substance is used - iodine, which, when exposed to it, releases products that are selectively absorbed by red blood cells. When a solution of potassium iodide is administered, intravascular hemolysis occurs, resulting in a bluish color of the serum. As a result of heme metabolism, a colored oxidation product is formed, which is absorbed by red blood cells (since they lack a metabolic catalyst). The intensity of the staining determines the degree of hemolysis (normally, the color does not change or becomes less saturated, the growth rate is linear). Changes in the degree of hemolysis affect only human red blood cells. In a healthy child, the percentage of their destruction is about 0.3, while in an adult it is about 2%. A positive reaction to the Kuhnke-Wetzel test is most often observed in acute infectious processes (sepsis), traumatic conditions (hemorrhagic tissue damage), blood diseases (for example, thalassemia, spherocytosis), clotting disorders