Phenylketonuria in infants

Phenylketonuria in infants

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Phenylketonuria is a congenital metabolic disorder that appears in the hereditary pathway. It is caused by the lack of an enzyme in the body called phenylalanine hydroxylase, which plays an essential role in metabolizing protein foods. If the child does not receive treatment on time, the disease can degenerate into serious neurological disorders (mental retardation), but also to other developmental problems.


Phenylketonuria is an autosomal recessive disease. This means that the baby must inherit the defective gene from both parents to manifest the disease. If he receives it from only one parent, the child does not manifest the disease, but becomes a carrier.
Amino acids are the cornerstone for protein. The enzyme phenylalanine hydroxylase has the role of metabolizing or converting phenylalanine (an amino acid commonly found in protein foods) into another amino acid called tyrosine, but also into other substances that the body needs to function normally. A genetic mutation causes its deficiency, which causes essential measures in the feeding of the child.


Although it is a congenital disease, the symptoms do not appear immediately after birth. But the disease can be diagnosed immediately afterwards and is one of the mandatory tests that are done today for newborns. Without proper treatment, the condition begins to manifest in a few months with mild, moderate or severe symptoms:

  • mental retardation;
  • social and behavioral problems;
  • low birth weight;
  • seizures (seizures);
  • sudden tremors or bruises of the arms and legs;
  • hyperactivity;
  • slow growth;
  • rash (eczema);
  • microcephaly (very small head);
  • smell similar to the mold of respiration, skin and urine (due to excess phenylalanine);
  • light skin and blue eyes (due to the inability of phenylalanine to turn into melanin).

The disease can be detected from birth even if it is not manifest. Tests for this purpose consist of urine analysis (Phenistix) or blood test (Guthrie).
Starting with 2002 and in Romania, the Guthrie test for newborns is mandatory. This law was adopted following the model of other European countries and especially of the USA and is considered a mandatory and free birth test.


Phenylketonuria cannot be completely treated. But her symptoms can be relieved by strict dietary rules and measures.
The treatment consists of careful monitoring of the diet and reduced consumption of protein foods, because they contain phenylalanine, and the body cannot metabolize it.
Although in the past doctors recommended dieting only until adolescence, for more caution doctors recommend that the diet be kept for life.
Foods that should be avoided at any price are:

  • milk;
  • eggs;
  • cheese;
  • nuts;
  • soybean;
  • beans;
  • chicken;
  • beef;
  • over;
  • Chocolate;
  • green peas.


Children should avoid all these foods and even some soft drinks, but they may occasionally and cautiously consume from:

  • Easter;
  • rice;
  • bread;
  • cakes;
  • some fruits or vegetables.

Infants should receive special milk formulas, specially designed to meet their nutritional needs, but also to avoid elements that harm their health.

Tags Protein children Congenital diseases Genetic diseases


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