Genetic Disorders - When Diet Plays an Extraordinary Role
Alicja Kowalska
2026-03-23
7 min. read
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Modifying one's lifestyle constitutes one of the elements of therapy in numerous cases of illness. Occasionally, appropriate dietary habits that exclude particular products are the only means of improving bodily functions. Nutrition holds special significance in the case of certain genetic abnormalities.
Phenylketonuria - Manifestations and Therapy
Phenylketonuria is a rare metabolic disorder with a genetic basis that arises from a mutation in a gene responsible for coding phenylalanine hydroxylase, an enzyme necessary for the metabolic conversion of phenylalanine, one of the exogenous amino acids delivered to the body with food. The deficiency of this enzyme leads to the accumulation of phenylalanine and its metabolites in the body, which causes disruptions in the functioning of the body, primarily in the nervous system. Early signs of phenylketonuria appear in infancy and include symptoms such as hyperactivity, vomiting, seizures, skin rashes, and a characteristic odor. Improper treatment of phenylketonuria can lead to irreversible neurological changes such as speech disorders, gait disorders, impairment of visuomotor coordination, epileptic seizures, and intellectual disability. In Poland, routine screenings for phenylketonuria are performed on every newborn, allowing for early detection of the condition. Unfortunately, there are no medications that can halt the progression of phenylketonuria. The foundation of therapy is the early introduction and stringent adherence to an elimination diet, which enables symptom management and the prevention of serious damage to the nervous system.
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