Phenylketonuria leads to idiocy

What is phenylketonuria, and why it is so important to identify it during the first days of baby life.

Phenylketonuria (PKU) - a hereditary disease characterized by severe impairment of amino acid metabolism, mainly phenylalanine.In most cases, the child is not sick liver enzyme that promotes the conversion of toxic for the body in a non-toxic phenylalanine tyrosine.Thus, phenylalanine and its products accumulate in the body, causing severe damage to the CNS.

This disease is inherited in an autosomal recessive manner, which is characterized by the following features: there are sick children in every generation, equally ill men and women, the sick child born to healthy parents (ie parents of the baby, and grandmothergrandparents may even be unaware that they are carriers of the PKU gene).

Weather Forecast for PKU and depend on how early and accurately has been diagnosed as the correction of disturbed metabolism child requires special food from the first year of life.Otherwise, he will lag behind in

development - both physically and mentally.Furthermore, there may be convulsions, eczema, neurological and mental disorders.

How to compensate

PKU patients received a diet in which the excluded foods containing the amino acid phenylalanine, from the birth, and at least until puberty.These are products that contain animal protein (meat, fish, dairy products, beans, mushrooms).vegetable protein content normalized carefully considering the weight and age of the child.It makes up for the lack of protein specifically designed for such patients, amino acid mixtures, which are excluded from phenylalanine.

how to identify PKU

order to identify PKU screening tests carried out.To do this, the newborn to 3-4-th day (usually in the discharge day) blood taken from the heel and is applied to the paper form in separate circles.This form is delivered to the medical and genetic laboratory.There is carried out a study on the detection of phenylalanine in the blood of the baby.If the test was positive, it is reported to parents.

to child development was not affected, the diagnosis should be delivered no later than the third week of life.

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