The consequences of phenylketonuria can happen when the diagnosis is made late, with a large amount of phenylalanine accumulated in the blood, or when this toxic substance reaches specific areas of the brain, which can result in delayed intellectual development, microcephaly, seizures and tremors, for example.
Phenylketonuria is a metabolic disease characterized by deficiency in an enzyme responsible for the degradation of phenylalanine, which, in high concentrations, is toxic to the body. This disease can be detected right after birth by means of the heel prick test, and treatment is started quickly in order to avoid complications.
Main consequences of phenylketonuria
When phenylketonuria is not treated correctly, the large amount of phenylalanine in the blood can result in some complications, the main ones being:
- Delayed psychomotor development; Little brain development; Microcephaly; Hyperactivity; Behavioral disorders; Decreased IQ; Severe mental deficiency; Seizures; Tremors.
Over time, if the child is not properly treated, there may be difficulty in sitting and walking, behavioral disorders and delayed speech and intellectual development, in addition to depression, epilepsy and ataxia, which is loss of control. of voluntary movements.
When a certain region in the brain is affected by the accumulation of toxins, even if the person follows the treatment correctly, the injured region will not be healed and the injury will be permanent. However, following the diet correctly will prevent other areas of the brain from being injured. See what the diet for phenylketonuria should be.
How to identify and treat phenylketonuria
The diagnosis of phenylketonuria is made shortly after birth by means of the heel prick test, however, if the disease has not been identified by the heel prick test, it is possible to perform a blood test to check the concentration of phenylalanine in the blood and the presence of the disease-related mutation. Understand how the diagnosis of phenylketonuria is made.
It is important that the diagnosis of phenylketonuria is made as soon as possible, as this makes it possible to quickly establish adequate nutrition, preventing the child from showing signs and symptoms of the disease and allowing normal neuromotor development.
Phenylketonuria is a disease that cannot be cured and that is why people should be very careful when eating for life, eating only specific products for phenylketonurics and investing in foods that contain small amounts of phenylalanine. Simple everyday foods like eggs, fish, rice and beans have high levels of phenylalanine and for these, it can be a "poison", and therefore cannot be eaten.
To ensure the adequate nutritional quantity, patients diagnosed with phenylketonuria must take the formulas for phenylketonuria, which contains the modified substance, daily, so that it is not "poisonous" to the brain. Learn more about treatment for phenylketonuria.
