FENILCETONURIA

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	FENILCETONURIA
	*FENILCETONURIA*

FENILCETONURIA

Fenilcetonuria

It is a hereditary disorder of the metabolism that causes mental delay.

It affects mainly to one of each 15,000 children of European Nordic ancestry.

Diagnosis and treatment

Diagnosis

The blood of new born is analyzed taking drops from its foot.

Treatment

The treatment consists of avoiding the fenilalanina ingestion (to see Diet).

Free special milky formulas of fenilalanina exist.

After the complete cerebral development acúmulo of fenilalanina is not so detrimental.

Diet

The rich foods in fenilalanina, and that will have to be avoided, are the origin proteins animal:

maternal milk

cow milk

milky products

meat, fish and eggs

The poor foods in fenilalanina, and that will be able to occur freely, are the proteins of vegetal origin:

vegetables

fruits

cereals

vegetables

Complications

The own ones of the disease.

Prognosis

Good if there is a strict control of the fenilalanina ingestion.

Causes

It affects the way in which the body processes foods: the young affection cannot process a component of proteins (amino acid) fenilalanina call by lack of the corresponding enzyme.

As result the fenilalanina is accumulated in blood and causes cerebral damages and mental delay.

It is inherited of recesiva form:

Both parents must have the defective gene,

The probability that they go it to his children is of 75 %,

of them the probability of suffering the disease (to inherit defective genes both) will be of 25 %

and of which they are carrying (they will take a defective copy - that will be able to pass to their descendants and another normal one to him) of 50 %.

The probability that the son is completely normal (that takes two normal copies of the gene, and therefore neither suffers the disease nor can transmit it) is of 25 %.

These probabilities are independent for each pregnancy.

Signs and symptoms

The children seem normal the first months.

Later they begin to lose interest around by his and to the year already they have a mental retardation, that does irritables to them, anxious and destructive.

They can appear convulsions.

Dry skin, eruptions in skin and scent like a mould.

They have the blond hair and they are developed well.

Factors of risk

The pattern of inheritance of the disease has already commented.

Rich feeding in fenilalanina.

Maternal nonlactation.

Prevention

Precocious diagnosis by means of amniocentesis or coriónica biopsy in the first weeks of pregnancy.

Its detection within the framework comprises of the battery of tests that are made to new born habitually, of the programs of detection of metabulopatías (defects of the metabolism) impelled by the Sanitary Authorities.

The low feeding in fenilalanina must begin before the fourth week of life.

Genetic advice to the parents.

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