Abstract
ObjectivePhenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH) which can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures. In this study we evaluated the frequency of seizure, EEG abnormality and behavioral disorders.Materials & Methods In this case study, 94 PKU children aged between 1 month and 23 years who were referred to Mofid children Hospital between 2009 and 2010 were enrolled.Patients were age and sex matched. Statistical tests were used for comparing patients' data.Results The mean age of patients was 8.4 years. Parents were relatives in 80.9% of the cases (76 patients). Of all, 43% (45 patients) had seizure but EEG was abnormal only in 81% of them (35 patients out of 43 patients). Totally, EEG was abnormal in 67% of the cases (63 patients) of whom 44.4% (28 patients of 63 patients) did not have seizure. Therefore, there was a significant relationship between seizure and EEG abnormality. The phenylalanine level ranged from 8mg/dL to 50mg/dL (mean: 18.88 mg/dL) at the time of diagnosis and from 0.4mg/dL to 18mg/dL (mean: 7.37mg/dL) at the time of evaluation. On the other hand,we observed abnormal behaviors in all EEG abnormalities and there was a significant relationship between EEG abnormality and behavioral disorders.ConclusionIn our study, the prevalence of seizure was less than EEG abnormality and there was a significant relationship between EEG abnormalities and behavioral disorders in patients with Phenylketonuria regardless of seizure.The authors believe that treatment of EEG abnormalities may lead to the correction of behavioral disorders in these patients.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.