The Phenylketonuria It is a congenital and inherited metabolic disease that is caused by the lack of an enzyme that the body uses to transform an essential amino acid (amino acids are the basis of proteins and our daily protein needs are actually amino acid needs), called phenylalanine
What causes this disease is the accumulation of phenylalanine in the blood and body fluids of the baby. This disorder can affect the child's brain causing mental retardation.
Luckily, it is usually detected in the first days after the birth of the baby and in case of being diagnosed, the appropriate treatment is provided through a special milk. When the child begins to be provided with solid foods, they are generally vegetables, thus establishing mainly a vegetarian diet that provides the minimum amount of phenylalanine. The incidence of this metabolic disorder is one child for every 20,000, it has a minimum incidence but that is not something that we should not take into account. If your child has this metabolic disorder, the Federation of Spanish Associations of Phenylketonuria and other Metabolism disorders (FAEFOTM) can guide you on your possible doubts related to treatment, feeding, etc.
This association does not have a website but you can contact them by calling 954 235 724 or by email, [email protected].
