الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Phenylketonuria (PKU) is the most common inherited disorder of amino acid metabolism. Hyperphenylalaninemia is defined as a plasma phenylalanine value above 2 mg/dl. The basic biochemical abnormality is the impaired conversion of phenylalanine to tyrosine as a result of defect in phenylalanine hydroxylation system. All defects causing hyperphenylalaninemia are inherited as autosomal recessive traits. Increased phenylalanine in the blood leads to its accumulation in the CNS. This results in severe brain damage, a characteristic feature of the disease.
Early diagnosis of PKU is essential to stop the occurrence of severe brain damage with its effects. Consequently, neonatal screening has become wide spread in the USA, Australia, Great Britain and other European countries since 1960’s.
The aim of this work was to study the frequency of hyperphenylalaninemia among patients with unexplained mental retardation and/or epilepsy.
This study was conducted on 2 groups of patients; 20 with unexplained mental retardation and 20 with uncontrolled or poorly controlled epilepsy without evidence of gross motor defects, or history of significant prenatal, neonatal, or postnatal insult. The patients were selected from attendants of neurology clinic of El Shatby University Children’s Hospital. Ten apparently healthy children of comparable age and sex were included as control group.