ORIGIN AND CAUSES OF PHENYLKETONURIA

Abstract

Phenylketonuria (phenylpyruvate oligophrenia) is a severe hereditary disease caused by a deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Blocking the conversion of phenylalanine to tyrosine leads to hyperphenylalaninemia. Phenylpyruvate, together with iron trichloride, gives the urine a green color. This helps to diagnose phenylketonuria early in newborns. The patient's tissues, blood and urine contain increased levels of phenylalanine and its metabolites. The disease manifests itself in the first days of life. Phenylketonuria is characterized by mental retardation, which occurs in children aged 2-3 years. Sick children lag behind in mental and physical development. If the patient is given a diet low in phenylalanine, the progression of the disease and the symptoms of the disease slows down.