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High incidence of PKU a cause for concern, says expert.

Summary: RIYADH: One out of 13,000 newborns in the Kingdom are afflicted with Phenylketonuria (PKU), a scientific workshop in Riyadh was told on Wednesday.

The workshop "Phenylketonuria: Advances and Challenges" was organized by the King Faisal Specialist Hospital and Research Center (KFSH). PKU is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. The workshop was held to discuss the latest developments and to explore ways and means of helping both the patients and their families in the treatment of the disease. In his opening remarks, Dr. Zuhair Rahbeeni, chairman of the organizing committee, said around 500,000 infants are born every year in the Kingdom and the rising incidence of PKU is a cause for concern for both parents and the medical fraternity. "This is an exciting era for medical genetics in the Kingdom. Over the last few years, information on molecular pathogenesis of many genetic diseases has expanded significantly. Parallel to this, there is a growing focus on medical genetics in the Kingdom both at the governmental and public level," Rahbeeni said. He pointed out that two programs for prevention of genetic diseases have been launched at the national level, which include premarital and newborn screening programs that was started in 2003 and 2005 respectively. "Newborns are screened for 16 diseases," he said. Rahbeeni, a consultant at Department of Genetics at KFSH, said that the hospital alone has some 150 PKU patients and noted that there is every possibility of more cases in other hospitals in the Kingdom. Rahbeeni explained the need for an extended support system to keep a PKU-affected child normal. "The cost, both monetary and physical, is huge," he said. The physician said it would cost a patient SR10,000 a year to maintain them as healthy and normal children. It is costly because of the cautionary nature of the dietary requirement for PKU-affected children. He also pointed out that social service organizations such as Al-Tawasul Charity Women Establishment (TCWE) is playing an important role in looking after patients and their families by offering counseling, financial assistance, and social and emotional support. Sulafah Jabarti from TCWE, which put up a pavilion outside the auditorium of the workshop, told Arab News that her organization has identified some 70 patients with their families in major cities, such as Jeddah, Riyadh and Dammam. Around 25 such families have been handpicked for providing various forms of assistance. Faeed Al-Shehran, from Saudi Society for Medical Genetics, said that his society is concerned with the people who suffer from genetic diseases. "We are there to help such patients in whatever form," he added. Besides the social service organizations, pharmaceutical companies also exhibited their products and services outside the auditorium. Professor Blau Menad, head of clinical and biochemistry services at the Children's Hospital in Zurich, said PKU is characterized by elevated blood phenylalanine (Phe) levels which are toxic for the brain. "Hyperphenylalaninemia (HPA) may damage the brain through several mechanisms. HPA has been shown to disrupt myelination (a mixture of proteins and phospholipids forming a whitish insulating sheath around many nerve fibers) with delayed or reduced myelination in children and loss of myelin in adults." Suhad Al-Muaigi said with the introduction of newborn screening supported with early dietary management, PKU has become a treatable disease. But this management has to be strictly adhered to. "People born with PKU can now have IQs and achievements similar to their peers."

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Publication:Arab News (Jeddah, Saudi Arabia)
Date:Sep 21, 2011
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