This is a disease associated with impaired amino acid metabolism. In particular, phenylalanine. As a result of disorders in the reactions of converting this amino acid to another (tyrosine) due to a deficiency of the desired enzyme, it and its toxic products (phenyl ketones) accumulate in the body. They negatively affect, first of all, the nervous system. Literally translated from Latin - “the presence of phenylketones in the urine” - this is what the term “phenylketonuria” means. What kind of metabolic disorder is now clear, and the cause of the development of the problem lies in a hereditary anomaly. It is transmitted in an autosomal recessive manner.
How pathology manifests
If a person has a defect in the gene responsible for the synthesis of the necessary enzyme, phenylketonuria occurs. What does this mean, we figured it out. When is such a diagnosis made? The disease does not outwardly manifest itself immediately after birth, the children look quite normal, are born on time and normally developed. However, later (at 2-6 months) symptoms appear:
- lagging behind in physical and mental development;
- excessive sweating witha peculiar "mouse" smell from the child;
- irritability, tearfulness;
- drowsiness and lethargy;
- convulsions
- may be vomiting.
Phenylketonuria is also manifested by the occurrence of skin lesions (dermatitis, eczema). What it is and how it looks in the patient is clear, but these signs are not specific - many ailments can have similar symptoms.
How to identify this disease
If the doctor suspects a disease based on clinical signs, he will prescribe a determination of the amount of phenylalanine in the blood.
Also, a medical facility will take urine for analysis, so phenylketonuria can be diagnosed from 10-12 days of a child's life. Now in maternity hospitals, on the 3-4th day from birth, the baby is given some screening tests to detect various metabolic disorders. The test for this pathology is one of them. The disease phenylketonuria is diagnosed quite often, one child out of 8000 is born with this problem. Genetic methods for diagnosing pathology are also available: detection of mutations in the corresponding gene.
How to cure a patient
As we understood, genetic diseases include such a disease as phenylketonuria. What does it mean? There are two ways to treat people with such hereditary enzyme deficiencies: bring the latter into the body l
for to exclude from the diet products that require this enzyme for digestion, assimilation, intermediate metabolism. In the case of this diseasethe last option is used. Patients strictly limit the intake of phenylalanine with food. This should be done as early as possible to prevent irreversible intoxication of the brain. For nutrition, special protein mixtures without phenylalanine are used to make up for the lack of proteins.
Methods of treatment are also being developed in a different way - the introduction of a plant substitute for the enzyme. A modern genetic therapy is also being tested: the introduction of a gene that controls the production of the missing enzyme.
