Sometimes all the bright plans and hopes that overwhelm young parents can be crossed out in one movement. For example, a terrible diagnosis is phenylketonuria.
Causes of phenylketonuria in children
Phenylketonuria is a genetic disease, the essence of which is the violation of the amino acid metabolism, namely, the absence of the enzyme phenylalanine hydroxylase, which is responsible for the exchange of phenylalanine, the protein found in most foods traditionally consumed in food. Not split protein is a serious danger to the human brain and nervous system.
The disease is not so rare - in 1 of 7000 cases. Unfortunately, a child with this disease can appear in perfectly healthy parents, provided that they are both carriers of the latent, "sleeping" gene of phenylketonuria.
Signs of phenylketonuria
The danger of the disease is that it is impossible to recognize it during the period of newborn without special tests. And the first signs can appear only in 2-6 months:
- lethargy;
- diarrhea, vomiting;
- decreased muscle tone;
- changes in the skin;
- mental retardation.
If the disease does not reveal in time and does not begin treatment, mental retardation can reach a high degree.
Phenylketonuria: Screening
For a timely detection of the disease, mass neonatal screening is used - a study of the blood of a newborn to contain phenylalanine. If the indicators are raised, the child is sent to a geneticist to clarify the diagnosis.
Phenylketonuria: treatment
The main thing in the therapy of this terrible disease is proper nutrition with phenylketonuria. The essence of the diet in the exclusion of products containing phenylalanine, that is, all protein foods of animal origin. Deficiency of protein will be filled with special amino acid mixtures.
With age, the sensitivity of the nervous system to the unsplit protein decreases and virtually all patients with phenylketonuria after 12-14 years of age switch to a normal diet.