This is a disease associated with impaired amino acid metabolism. In particular, phenylalanine. As a result of disturbances in the reactions of the conversion of this amino acid to another (tyrosine) due to deficiency of the desired enzyme, it and its toxic products (phenylketones) accumulate in the body. They negatively affect primarily 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 disturbance is now clear, and the cause of the development of the problem lies in the hereditary anomaly. It is transmitted in an autosomal recessive manner.
How is the pathology manifested?
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 out. When is such a diagnosis made? Outwardly, the disease does not appear immediately after birth, the children look quite normal, are born on time and are normally developed. However, later (in 2-6 months) symptoms appear:
- lag of physical and mental development;
- increased sweating with the presence of a peculiar “mouse” smell from a child;
- irritability, tearfulness;
- drowsiness and lethargy;
- cramps
- may be vomiting.
Also, the occurrence of skin lesions (dermatitis, eczema) manifests phenylketonuria. 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 a doctor suspects a disease on the basis of clinical signs, he will prescribe a determination of the amount of phenylalanine in the blood.
Also, in a medical institution urine is taken for analysis, phenylketonuria can thus be diagnosed from 10-12 days of a child's life. Now in maternity hospitals, for 3-4 days from birth, the baby is undergoing some screening tests to detect various metabolic disorders. A test for this pathology is one of them. Phenylketonuria is often diagnosed; one out of 8,000 children 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, a disease such as phenylketonuria belongs to genetic diseases . What does it mean? There are two ways to treat people with such hereditary enzyme deficiencies: to introduce the latter into the body
for to exclude from the diet foods that require a given enzyme for digestion, assimilation, and intermediate metabolism. In the case of this disease, the latter option is used. Patients are strictly limited to 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.
Treatment methods are being developed in a different way - by the introduction of a plant substitute for the enzyme. A modern genetic method of therapy is also being tested: the introduction of a gene that controls the production of the missing enzyme.