Amino Acid Exchange Abnormalities- a group of diseases, to-ryh is based on a hereditary defect in the activity of enzymes catalyzing the metabolic reactions of amino acids. The mechanism of development of these diseases is characterized by impaired synthesis or transport of protein. Allocate 4 types A. and. about. Type 1 - metabolic disorders of amino acids, accompanied by an increase in their concentration in the blood and urine; due to impaired synthesis or structure of enzymes.
Now there are 23 forms of this pathology. The most common disease of this group is phenylketonuria. Type 2 is a metabolic disorder of amino acids, accompanied by an increased excretion in the urine without changing the level in the blood. There is a decrease or absence of reabsorption of amino acids in the kidneys. Homocystinuria is a characteristic inherited hyperaminoaciduria. The 3rd type - disorders of the amino acid transport systems. Diseases of this group tend to reduce the reabsorption of amino acids in the intestines and kidneys.
Cystinuria type 1, 2 and 3 represents this group of diseases. 4th type - secondary hyperaminoaciduria, arising under the influence of various unfavorable factors on the renal transport system. The level of amino acids in the serum is normal, hyperaminoaciduria is noted in the urine. This condition is observed in nephrotic syndrome, burns, infections. diseases, etc.
CLINIC A. a. about. varied. The most characteristic lesion of c. n e., an increase in the content of certain amino acids in the urine, serum. The treatment is effective with the possible correction of metabolic disorders. In phenylketonuria, the protein food of the child from the first days of life is replaced by hydrolysates that do not contain phenylalanine (berlofen, cymogram, lofenalac, nofelan, hypofenate, etc.).
After 4 years of age, the child is transferred to a normal diet; development is normal. With homocystinuria, a positive effect on dietary restriction is methionine and the additional administration of pyridoxine (vitamin B6).