Phenylketonurid

Phenylketonuria is a hereditary disease associated with impaired protein metabolism in the body. As a result, an excess amount of the amino acid phenylalanine accumulates in a person’s blood, which leads to damage to the nervous system and manifests itself in significant mental retardation.

Testing the blood of newborn babies for the presence of phenylalanine (see Guthrie test) allows you to detect this disease at an early stage and, with the help of an appropriate diet, prevent brain damage; The food of a sick child should contain proteins devoid of phenylalanine.

The gene responsible for the development of phenylketonuria is recessive, so a child inherits this disease only if both his parents are carriers of this defective gene.

Phenylketonemia is a hereditary metabolic disorder that is associated with impaired utilization of phenylanine, an amino acid necessary for the production of proteins.

This means that a patient suffering from PKE has too many phenylanine-containing products accumulated in the body.