Phenylketonuria

Brief description of the disease

 Phenylketonuria in children

Phenylketonuria - a hereditary disease that is characterized by impaired protein metabolism.

For the first time the disease is discovered in 1934. Phenylketonuria is inherited by the so-called autosomal recessive manner, that is, perfectly healthy parents (carriers) can be born sick children with phenylketonuria.

Types of phenylketonuria

There are three types of the disease.

Phenylketonuria first type - characterized by a deficiency in the body of the enzyme phenylalanine-4-hydroxylase. Through this enzyme amino acid phenylalanine is converted into tyrosine. In most cases it inherited phenylketonuria of this type (in 98% of cases).

Phenylketonuria second type - characterized by a lack of the enzyme as a digidropteridinreduktaza. Patients with phenylketonuria second type suffer seizures and mental retardation. This type of phenylketonuria in children is rare (1-2%), but is usually fatal in the 2-3 years of age.

Phenylketonuria third type - characterized by a deficiency of tetrahydrobiopterin. Symptoms of this type of phenylketonuria include mental retardation due to microcephaly - reducing the volume of the brain.

Reasons for phenylketonuria

The main causes of PKU children is considered a mutation of a gene located on chromosome 12. Related marriages increase the risk of abnormalities.

At deficiency of certain enzymes, an increase in blood phenylalanine derivatives which have a toxic effect on the nervous system of the child. Phenylketonuria is inherited almost the same as the boys and girls.

The symptoms of phenylketonuria

Symptoms phenylketonuria are not immediate. In most cases, the suspect phenylketonuria in children immediately after birth is almost impossible. In view of the baby looks healthy, born at term and with normal weight. But after a few weeks of symptoms of phenylketonuria. The main feature of the disease is considered severe vomiting. In the period from two to six months, as the mother, and the attending doctor may notice a lag in a child's mental and physical development.

Children with phenylketonuria, and later the rest of their peers begin to sit up and walk. It is also obvious symptom of phenylketonuria is sweating with a characteristic "mouse" smell of sweat. Observed cramps, irritability, fatigue, moodiness, and tearfulness, reducing the size of the head, skin rashes. In children suffering from phenylketonuria, late teething.

With the development of phenylketonuria increased muscle tone, which is characterized by a certain posture in a child that is called "pose tailor" (bent at the joints hands and feet).

The treatment of phenylketonuria

 Diet food - the mainstay of treatment for phenylketonuria

The only treatment for PKU is a diet to be followed for more than ten years after diagnosis. Children with PKU can not metabolize large amounts of phenylalanine, so there are certain norms of consumption, which depends on the age. A child up to two months can not consume more than 60 mg / kg of phenylalanine, and children older than six years - no more than 10-15 mg / kg.

As for breastfeeding, then there must adhere to strict rules. Mom should control the amount of breast milk that the baby drinks. Therefore feeding is necessary to use only expressed milk and in an amount that is allowed for a particular age of the child. For this there are special tables with the norms of consumption of phenylalanine, and the formula for calculating the amount of breast milk per day. Finish feeding baby special mixes which do not contain phenylalanine.

The introduction of complementary foods in children with phenylketonuria start with fruit and berry juices. As the solid food offered child vegetable purees without milk. Use a protein-free and dairy-free cereal porridge from rice or corn flour.

Treatment of PKU through food include failure or a very limited consumption of foods such as fish, meat, bread, sausage, cheese, eggs, chocolate, beans, nuts and cereals. These foods contain large amounts of protein. Fruits and vegetables are introduced into the diet given count therein phenylalanine.

Drug treatment of PKU involves taking vitamins, calcium supplements, iron and phosphorus. Also shown is the administration of drugs to improve cerebral circulation, microcirculation and tissue metabolism. Recommend class physical therapy and massage.





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