Phenylketonuria is a hereditary disease of a group of fermentopathies associated with impaired metabolism of amino acids, mainly phenylalanine. Accompanied by the accumulation of phenylalanine and its toxic products, which leads to severe damage to the central nervous system, manifested as a mental disorder.
The main symptoms of phenylketonuria
Onset in early childhood and include vomiting, a scaly skin rash, irritability, and musty (“mouse”) body odor due to abnormal composition of urine and sweat. Symptoms from the central nervous system can be different, traditionally these are obsessive movements, twitches, convulsions. The most severe complication of the disease is mental retardation, which in the absence of treatment is almost inevitable.
Treatment of phenylketonuria
Treatment of this disease is reduced mainly to diet therapy. From the moment of confirmation of the diagnosis of phenylketonuria, a diet with a sharp restriction of the content of phenylalanine is introduced. Because Since this amino acid is found in large quantities in protein, all protein products of animal origin are excluded from the diet. These are meat, milk, fish, mushrooms.
At the initial stage of treatment, children receive food in which phenylalanine is completely absent. Since a long and complete exclusion of phenylalanine from food can lead to the breakdown of endogenous (own) protein and exhaustion of the baby. Therefore, the need for proteins is compensated with the help of protein hydrolysates or amino acid mixtures. After the concentration of phenylalanine in the blood drops to normal, they begin to gradually introduce animal products. The baby’s diet consists of vegetables, fruits, fats, carbohydrate products, with strict consideration of the content of phenylalanine in them. It is necessary to ensure the intake of this amino acid in the body in quantities sufficient for normal growth and development, but not conducive to its accumulation in tissues.