Fenilketonuriya

Description:

Fenilketonuriya - a serious hereditary illness which is characterized mainly by defeat of a nervous system.

Fenilketonuriya's symptoms:

Signs of a fenilketonuriya are found in the first weeks and months of life. Children lag behind in physical and psychological development; slackness, excessive drowsiness or an acrimony, tearfulness are noted. In process of progressing of a disease epileptiform attacks - developed convulsive and convulsiveless like nods, bows, starts, short-term shutdowns of consciousness can be observed. The hypertension of separate groups of muscles is shown by a peculiar "pose of the tailor" (the drawn-in legs and the bent hands). Hyperkinesias, a tremor of hands, an ataxy, sometimes paresis on the central type can be observed. Children quite often blond with light skin and blue eyes, at them are often marked out dermatitis, eczema, the increased perspiration with a specific (mouse) smell of sweat and urine. Tendency to an arterial gipoteneiya is found. In the absence of treatment the idiocy or a deficiency of intellect, deep mental disability develops.

Diagnosis. It is extremely important to establish the diagnosis in a preclinical stage or at least no later than the 2nd month of life when the first symptoms of a disease can be shown. For this purpose all newborns are inspected on special prophams of the screening revealing increase in concentration of phenylalanine in blood in the first weeks of life. Each child in whom signs of an arrest of development or the minimum neurologic symptomatology are found needs to be inspected on phenylalanine exchange pathology. Use microbiological and flyuorometrichesky methods of definition of concentration of phenylalanine in blood, and also test of Felinga on phenyl-pyruvic acid in urine (addition of several drops of 5% of solution of trichloride iron and acetic acid to urine of the patient leads to emergence of green coloring of a spot on a diaper). These and other similar methods belong to the category approximate therefore at positive takes special inspection is required with is used I eat exact quantitative methods of determination of content of phenylalanine in c blood to urine (a chromatography of amino acids, use of aminoanalyzers, etc.) which is carried out by the centralized biochemical laboratories.

Fenilketonuriya's reasons:

As a result of a mutation of the gene controlling synthesis of a fenilalaningidroksilaza the metabolic block at a stage of transformation of phenylalanine into tyrosine develops owing to what the main way of transformation of phenylalanine is a deamination and synthesis of toxic derivatives - phenyl-pyruvic, phenyl-lactic and alpha-toluic acids. In blood and fabrics the maintenance of a fvnilalanin (considerably increases to 0,2 g/l and more at norm of 0,01-0,02 g/l). An essential role in a pathogeny of a disease is played by insufficient synthesis of tyrosine which is a predecessor of catecholamines and melanin. The disease is inherited on autosomal recessively type.

Fenilketonuriya's treatment:

At confirmation of the diagnosis by biochemical methods transfer of children into a special diet, with phenylalanine restriction is necessary that at early diagnosis guarantees normal psychological development of the child. Milk and other animal products exclude from a diet and appoint proteinaceous hydrolyzates (цимогран, лефанолак, Berlophenum, hypophenate) which become the main food stuffs providing the need for protein. Proteinaceous hydrolyzates enter with fruit and vegetable juice, puree, soups. Treatment is carried out under control of content of phenylalanine to blood, trying to obtain maintenance of its level within 0,03-0,04 g/l. Strict restriction of proteins of animal origin is required for the first 2-3 years of life.