Abstract
Background. Brain defect leading to developmental delay is one of the clinical manifestations of phenylketonuria. The aim of this study was to evaluate the association between EEG abnormality and developmental delay/behavioral disorders in phenylketonuria. Patients and Methods. 105 phenylketonuria patients, who were diagnosed through newborn screening tests or during follow-up evaluation, were enrolled. Patients who were seizure-free for at least six months before the study were included. The developmental score were evaluated by the ASQ questionnaire (age-stage questionnaire) and the test of child symptom inventory-4 (CSI-4), respectively. Results. 55 patients had a history of seizure more than 6 months before the study. Seventy had abnormal EEG (cases) and 35 had normal EEG (controls). There was no significant difference between mean phenylalanine levels in the abnormal and normal EEG groups at the time of diagnosis, after six months and at our evaluation. Distribution of DQ level in the abnormal and normal EEG groups revealed a significant difference. An abnormal EEG was associated with a higher percentage of low DQ levels. Conclusion. Paroxysmal epileptic discharges in PKU patients are important. Treatment of these EEG abnormalities may affect developmental scores or may lead to correction of some behavioral disorders in patients.
Highlights
Phenylketonuria is an autosomal recessive metabolic disease which may cause brain insult in the developing brain, leading to progressive neurodevelopmental delay.In this genetic metabolic disorder, the hepatic enzyme, phenylalanine hydroxylase (PAH), is missing
We evaluated the association between EEG abnormality and developmental delay as well as behavioral disorders in patients diagnosed as phenylketonuria
This study described the association between phenylalanine level and EEG changes, when Phe level increased, the EEG changes intensified and in contrast when the Phe level decreased the EEG changes reversed, indicating that Phe or its metabolites lead to EEG abnormalities [5]
Summary
Phenylketonuria is an autosomal recessive metabolic disease which may cause brain insult in the developing brain, leading to progressive neurodevelopmental delay. In this genetic metabolic disorder, the hepatic enzyme, phenylalanine hydroxylase (PAH), is missing. The aim of this study was to evaluate the association between EEG abnormality and developmental delay/behavioral disorders in phenylketonuria. There was no significant difference between mean phenylalanine levels in the abnormal and normal EEG groups at the time of diagnosis, after six months and at our evaluation. Paroxysmal epileptic discharges in PKU patients are important Treatment of these EEG abnormalities may affect developmental scores or may lead to correction of some behavioral disorders in patients
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