Disease information

Phenylketonuria - HIPERnatural.COM
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It is a hereditary metabolic disorder that causes mental retardation.

It affects one in every 15, 000 children mainly from northern European descent.

Diagnosis and Treatment.


We analyze the blood of newborn taking a few drops of your foot.


The treatment is to prevent the intake of phenylalanine (see Diet)

There are special milk formula free of phenylalanine.

After the full brain development the accumulation of phenylalanine is not as damaging.


Foods rich in phenylalanine, and should be avoided, are the animal protein:


cow milk.

dairy products.

meat, fish and eggs.

Foods poor in phenylalanine, which may be freely, are the proteins of plant origin:






The characteristic of the disease.


Well if there is strict control of the intake of phenylalanine.


It affects how the body processes food: children affections can not process a component of proteins (amino acid) called for lack of the enzyme phenylalanine concerned.

As a result phenylalanine accumulates in the blood and causes brain damage and mental retardation.

Inherits a recessive:

Both parents must have the defective gene,

The probability that it will be passed to their children is 75%,

the likelihood of them suffer from the disease (to inherit two defective genes) is 25%.

and they are carrying (carry one defective copy, which may happen to their offspring, and other normal) of 50%.

The probability that the child is completely normal (that carries two copies of the normal gene, and therefore neither suffer nor can transmit the disease) is 25%.

These probabilities are independent for each pregnancy.

Signs and symptoms.

The children seemed normal the first few months.

After starting to ignore her for about a year and already have a mental disability, which makes them irritable, restless and destructive.

Convulsions can occur.

Dry skin, skin rashes and smell like mold.

They have blond hair and developed well.

Risk Factors.

It has already been mentioned the pattern of inheritance of the disease.

Food rich in phenylalanine.

Non - lactating mother.


Early diagnosis by amniocentesis or chorionic biopsy in the first weeks of pregnancy.

Their detection is part of the battery of tests that are done routinely to newborns, as part of screening programs for metabulopatías (metabolic defects) driven by the Health Authorities.

The low phenylalanine diet should start before the fourth week of life.

Genetic counseling for parents.

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