European Society for Phenylketonuria calls for minimum standard of care across Europe

Alter, Belgium (ots) -

First ever pan-European perspective on optimal care identifies key
challenges in this rare genetic disease

The first ever pan-European patient/carer perspective on optimal
care of the rare genetic disorder phenylketonuria (PKU) has been
published in the Orphanet Journal of Rare Diseases. This paper,
supported by the European Society for Phenylketonuria and Allied
Disorders Treated as Phenylketonuria (E.S.PKU), underpins significant
deficiencies and inequalities in medical and social care, and
psychological support of those with PKU. It also makes the case for
action to be taken to improve the detection and management of the
condition on a number of fronts, including:

* Mandatory, universal screening for PKU in newborns
* Equal access to treatment and monitoring of the condition
throughout Europe
* Agreeing new standards of best practice
* Establishing European Centres of Expertise
* Reimbursing all aspects of treatment
* Specific interventions for high-risk groups
* Increasing the number of available healthcare professionals where
required and elevating the status of dietitians
* Access for patients to multi-disciplinary teams
* Training for carers to provide more comprehensive social support
for people with PKU

(Logo: http://photos.prnewswire.com/prnh/20140117/663799)

The paper was been developed by consensus of a working group led
by Tobias S Hagedorn, Executive Board member of the E.S.PKU and
Chairman of the German PKU Society (Deutsche Interessengemeinschaft
für Phenylketonurie und verwandte Stoffwechselstörungen DIG PKU),
following a multi-national stakeholder workshop involving
representatives from 15 different countries, and of the findings from
a benchmark report previously developed by the E.S.PKU and presented
at the European Parliament in February 2012.

Eric Lange, President of E.S.PKU said: "The publication of this
consensus paper is a significant milestone in the collective effort
to improve the treatment and management of PKU in Europe. It
represents the most far-reaching attempt to date to capture the views
of patients, professionals and advocates, providing a blueprint for
universally supported guidance for clinical practice. Despite the
availability of accurate screening techniques, dietary management
protocols and effective treatments, PKU management remains
under-resourced with unacceptable variations in care across a number
of countries.?

It is now hoped that European healthcare professionals will
develop evidence-based guidelines for use in clinical practice based
on the principles set out in the consensus paper. EU policy makers
will also be briefed on the importance of taking a comprehensive,
standardised approach to the management of the condition across the
region.

The paper is an open access publication and freely available here:
http://www.ojrd.com/content/8/1/191. Development of the paper was
supported by an unrestricted grant from Merck Serono, a division of
Merck KGaA, Darmstadt, Germany, with no influence on any content.

About Phenylketonuria (PKU)

PKU is a rare inherited disorder that affects around one in every
10,000 children born in Europe, with significant variations between
countries. People with PKU have a deficient liver enzyme, making them
unable to break down an amino acid found in food, called
phenylalanine. Consequently, levels of this amino acid build up in
the blood eventually causing damage to the brain and nervous system.
PKU can be managed by life-long adherence to a special diet. In
children, PKU, if left unmanaged, can cause irreversible brain damage
resulting in decreased IQ, executive function deficits and mental
retardation. The condition can also lead to slow reaction times, poor
concentration, poor memory and emotional issues including depression,
anxiety and irritability.

About E.S.PKU

The European Society for Phenylketonuria and Allied Disorders
Treated as Phenylketonuria (E.S.PKU), established in 1987, is the
umbrella organisation of around 30 national and regional associations
from 28 countries. It represents the interests of people with PKU and
those who care for them across Europe, supporting its members through
EU advocacy work and engagement with the clinical community. The
E.S.PKU itself is composed of a six-member Executive Board as well as
a Scientific Advisory Committee, which keeps the board informed about
the latest scientific developments on PKU. For more information,
please visit: http://www.espku.org

Contact:
For press enquiries, please contact:
Tobias S. Hagedorn
Secretary E.S.PKU
Wilhelm-Mellies-Strasse 10
D-32120 Hiddenhausen
Germany
E-mail: espku@t-online.de
Phone: +49-5221-122066
(It is best to contact Mr Hagedorn between 08.00 p.m. and 09.00 p.m.
CET)