Fenilketonuria

Phenylketonuria (PKU) or fenilketonuria is a disruption Genetic where fenilalanin formation of amino acids in the blood. Causing mental barriers that ireversibel and heavy, especially on the baby, if not treated immediately.

Causes and the emergence of

In PKU, children who suffer from this disease have a deficiency or the level of the rate of enzyme fenilalanin hidroksilase / phenylalanine hydroxylase (PAH) is low. PAH is required to change fenilalanin into other amino acids, namely tirosin. When fenilalanin not changed, and he will participate so that disrupt blood flow, metabolism, causing mental barriers. Fenilalanin is a component of protein, so when the protein consumed, fenilalanin will be formed on the people who have PKU.

At the time of birth, babies with PKU do not show signs or symptoms of interference because of this body of the mother was fenilalanin filter before the child was born. Symptoms may arise after the baby starts to consume protein (both from breastmilk or formula milk), and consequently fenilalanin formed in both the baby male or female and usually at the age of several months. If PKU is not treated, they cause severe mental barriers are progressive and other issues that affect the nervous system. The baby can not improve the ability of the mentalnya damaged.

PKU is a disease is resesif autosom. This means that for a contagious disease, a person must inherit genes from both parents. When someone genes inherited from only one of their parents, the children of men or women are as career / bearer. This means that the person carrying genes PKU, but not a contagious disease.

There is little information available about insidens PKU. In the United States, the research report:

* PKU occur 1 in every 13,500 to 19,000 births.
* Most occur in the skin of white citizens and Indian.
* Insidens lowest occurred in the black citizens, Hispanic and Asian.

Medicine

In the United States, routine inspections carried out immediately to the PKU babies in the new born. So that the examination and initial treatment allows the baby brain damage can be prevented. PKU treatment consists of a special diet to reduce the amount of protein (which contains mainly fenilalanin). Fenilalanin amino acid that is essential for normal growth and development and can not be removed from the diet.

When treated PKU during the age of 3 weeks, the baby will not have permanent brain damage. Rarely, found children who have learning problems or behavior (such as the development of speech is very slow, hiperaktif, anxiety, concentration and difficult), except with early treatment.

Pregnancy with PKU

Pregnant women suffering from PKU must be very careful. Fenilalanin rate level is high in the blood during pregnancy can cause babies to mental barriers, the head of a small (mikrosefal), the barrier body growth, and the risks associated with heart disease such as congenital heart / kongenital. American Academy of Pediatrics (AAP) and the U.S. National Institute of Health (NIH) offers recommendations and directives to prevent and deal with the pregnancy with PKU.

If you have a family history of disease, which has fenilketonuria, consult with your health experts to be done Genetic examination. If you have a child suffering from PKU, look Genetic consultant before attempting another pregnancy.