Researchers at Assiut University have in collaboration with Geir Bjørklund evaluated the neuropsychological status in 78 children with early and continuously treated phenylketonuria (PKU) in Assiut, Upper Egypt. PKU is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.
In 2015, the article was published in Acta Neurologica Belgica. The first author of the study, Khaled Saad, is an Associate Professor of Pediatrics at Assiut University, Assiut, Egypt. Bjørklund is the founder and president of the Council for Nutritional and Environmental Medicine (CONEM).
Khaled Saad, Yasser Elserogy, Ahmed A. Abdel rahman, Abdulrahman Abdullah Al-Atram, Ismail L. Mohamad, Tarek T. H. ElMelegy, Geir Bjørklund, and Amira A. El-Houfy
Acta Neurol Belg 2015; 115: 657–663. doi: 10.1007/s13760-014-0422-8
The aim of this study is to evaluate the neuropsychological status in a cohort of children with early and continuously treated phenylketonuria in Assiut, Upper Egypt. The study was implemented in seventy-eight phenylketonuria (PKU) children. Only 34 patients met the inclusion criteria. Investigated patients were evaluated according to detailed history, neurological examination, Childhood Autism Rating Scale, full scale Intelligence Quotient, attention deficit hyperactivity disorder, electroencephalography and magnetic resonance imaging (MRI). This study concluded that the prognosis for early diagnosed children with PKU treated from the first weeks of life is generally good. However, they are at increased risk for neurological complications and behavioral problems. So, neonatal screening for PKU is highly recommended in Egypt, for early detection and management. In addition, neuropsychological and MRI assessments in PKU children should be done.