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Serono Symposia International Foundation (SSIF) 4th European Phenylketonuria Group (EPG) Symposium


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Serono Symposia International Foundation (SSIF)

23 Mar, 2012, 10:00 GMT

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ROME, March 23, 2012 /PRNewswire/ --

"Advances and Challenges in PKU"

Rome, Italy - March 23-24, 2012

Serono Symposia International Foundation (SSIF) will gather a team of international experts in Inborn Metabolic Diseases on March 23-24 in Rome to attend the 4th European Phenylketonuria Group (EPG)  Symposium "Advances and Challenges in PKU".


     (Logo: http://www.newscom.com/cgi-bin/prnh/20100629/397361 )

The aims of the meeting are to review the most important outcomes of research in the field of phenylketonuria (PKU), an inherited metabolic disorder, responsible, if not early diagnosed and properly treated,  of severe irreversible mental retardation, microcephaly (an abnormally small head), epilepsy, and behaviour problems, thus providing a forum for participants to discuss solutions that can optimize patient management in clinical practice.

Patients affected by PKU are born with an inherited inability to metabolize the essential amino acid phenylalanine due to a complete or near-complete deficiency of the enzyme phenylalanine hydroxylase. "While dietary restriction of phenylalanine still remains the mainstay of treatment, PKU is an active area of research, and new treatment options that may reduce the burden of a difficult and limiting diet in these patients and their families are emerging" said Professor Nenad Blau, Scientific Organizer, Division of Inborn Metabolic Diseases University Children's Hospital Heidelberg, Germany.

Scientific and clinical research is now focusing on the mechanism of action of new treatment options, like sapropterin dihydrochloride, also named BH4, on monoamine neurotransmitters metabolism in the brain of PKU patients. Furthermore there's an emerging need for evidence - based international guidelines providing standardization in treatment initiation, in evaluation of the response to therapy with sapropterin dihydrochloride and in blood phenylalanine concentration to target.

By attending this Symposium, the participants will be provided with an up-to-date knowledge about brain pathology on PKU, the role of blood-brain barrier and brain neurotransmitters in PKU, management of BH4 deficiency and amino acid status, besides tools on social and financial management of the disease.

The Secretary to the Board of Directors, Michèle Piraux, reported: "The EPG and SSIF consider essential to continue their series of successful meetings on PKU reflecting the long term commitment to cover the medical educational needs of a wide range of diseases, including what is so called 'rare' diseases."

SSIF is an international non-profit organization founded 40 years ago to disseminate the most innovative achievements and developments of scientific research through Continuing Medical Education programs to improve the patient's life.

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