Analysis of Consequences of Phenylketonuria in Relation to Metabolic Compensation and Age

Authors: J. Šaligová 1;  Ľ. Potočňáková 1;  L. Bratský 2;  E. Figulová 2;  E. Fedorová 1
Authors‘ workplace: Oddelenie klinickej biochémie, Detská nemocnica Košice1 primárka MUDr. J. Šaligová Neurologické oddelenie, Detská nemocnica Košice2 primár MUDr. L. Bratský
Published in: Čes-slov Pediat 2003; (7): 451-455.


Phenylketonuria (PKU) belongs to genetically determined types of hyperphenylalaninemia (HPA). Due toall-population screening and possibilities of successful therapy it represents a model example of medical approachto hereditary metabolic disorders. The optimal metabolic compensation enables an adequate mental developmentwithout neurological damage. In contrast, insufficient metabolic compensation results in CNS damage. The earlychildhood is the period of highest health risk.The autohors analyze the occurrence of PKU consequences and their relation to the degree of metaboliccompensation in a group of 66 patients from the Center for Long-term Observation of Patients with PKU atChildren´s Hospital in Košice. No pathological symptoms were observed in the subgroup with non-PKU HPA.The ideal and medium degree of metabolic compensation was associated with a lower occurrence of PKUconsequences. On the other hand, insufficient compensation was associated with a high incidence of pathologicalmanifestations (90 % occurrence of psychopathological and 67% occurrence of neuropathological sings).

Key words:
phenylketonuria, metabolic compensation, CNS damage

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Neonatology Paediatrics General practitioner for children and adolescents
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