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July2005 Vol.42 Issue:        2        Table of Contents
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Clinical, Electroencephalographic (EEG), Neuroradiological and Molecular Correlations in Late-Detected Phenylketonuria (PKU) Patients

Ghada M.H. Abdel-Salam1, Ann A. Abdel-Kader4, Laila Effat2, Amr Gouda3, Amina Hindawy5, Mona A. El-Gammal1
Departments of Clinical Genetics1, Human Molecular Genetics2, Biochemical Genetics3,Human Genetics and Genome Research Division, National Research Centre,


The potential benefits of treating late diagnosed 60 patients with phenylketonuria (PKU) were investigated. Patients subjected to clinical, biochemical, IQ and electroencephalography (EEG) assessment and followed up in correlation with nutritional status. Further, a subset received magnetic resonance imaging (MRI). Screening for six common mutations (IVS10-11>A, R261Q, R252W, Y277D, E221D, V245V) was also performed. Patients were divided into different groups according to the onset of intervening year; imaging and molecular findings and the profiles of these groups were compared. Results showed that higher susceptibility to various patterns of seizures in 21 cases (35%) in the first two years of life however, this incidence decreased with age in spite of the elevated phenylalanine (Phe) level in blood. Alternately, EEG abnormalities increased with advancing age. Those exhibiting white matter abnormalities (WMAs) extending into subcortical/frontal regions (No=5) or WMAs with hypogenesis of corpus callosum (No=5) and or atrophy (No=11), displayed significant impairments in a number of domains. On the other hand patients showed no WMAs (No =10), or pathology restricted to the posterior periventricular region (No=15), displayed mild deficits. The most prevalent mutations were IVS-10-11 G>A (64.3%), and R261Q (35.7 %). The 14 patients characterised (23.3%) were homozygous for the mutations that they carry. This is consistent with the high rate of consanguinity (71.1%) among families with PKU. Unexpectedly, hyperphenylalanemia and mild PKU have been detected in 4 of the patients` mothers. The data of the present study show that dietary restriction could substantially improve the most serious consequences of PKU even for late-diagnosed mentally retarded persons with PKU.

(Egypt J. Neurol. Psychiat. Neurosurg., 2005, 42(2): 391-406).


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