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PHENYLKETONURIA

Probability of inheritance

Phenylketonuria (PKU), is a rare inherited disorder of protein metabolism with the highest average incidence in the world. It is estimated that about 1 out of 7- 10,000 babies born, has PKU.

The genetic cause (mutation) responsible for PKU is passed on by the parents, who are usually carriers and don’t have any symptoms of the condition themselves.  

The way this mutation is passed on, is known as autosomal recessive inheritance. This means a baby needs to receive 2 copies of the mutated gene to develop the condition – 1 from their mother and 1 from their father. If the baby only receives 1 affected gene, they’ll just be a carrier of PKU.
 

A brief overview of Phenylketonuria

A person affected by PKU is born with a reduced functionality or a total lack of an enzyme, phenylalanine hydroxylase, responsible for the metabolism of the amino acid phenylalanine. That is, its transformation for the correct use in the organism.

What happens if this condition is not treated?

The symptoms of the disorder are very severe. In fact, if PKU is left untreated, it can have a serious impact on the psychophysical development of the individual, neurological disorders and, finally, reduced life expectancy.

Fortunately, in-depth medical studies have pinpointed the importance of a nutritional therapy, first identified as early as the 1950’s, by Dr. Horst Bickel

With adequate therapy, and constant controls, the individual will remain well.
 

 

Newborn Screening

Early and accurate diagnosis is fundamental in the treatment of PKU. In the most advanced countries for newborn screening, it is possible to detect over than 40 metabolic disorders.  Once the diagnosis is confirmed, it is important to follow the necessary treatment prescribed

A Diet for Life

Lifelong adherence to diet

Nutritional treatment continues to be the reference therapeutic standard today. That is, in order to guarantee correct development and a good quality of life, it is necessary to follow a special diet for life.  The diet, which is based on natural foods with low levels of phenylalanine, includes low protein foods and protein substitutes based on amino acids or GMP.

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