PKU Association of Slovenia

	PKU Association of Slovenia

In Slovenia, first efforts to start neonatal screening for phenylketonuria (PKU) were made in 1967. The screening has run successfully since 1979. In July 1992, the quantitative fluorometric method was introduced. Results of the 13-year period of Guthrie method application are compared to results of the present period. Additionally, appropriate treatment, therapy duration and maternal PKU program are discussed. Methods. In all newborns with elevated phenylalanine (PHE) levels detected by neonatal screening performed with a dried blood drop collected from the newborn's heel on a filter paper on days 3 to 5 (cut off level 0.12 mmol/l), serum phenylalanine determination was done. Patients were categorized according to the severity of the PHE elevation. Incidences were calculated and compared by chi-square test. The incidence of classical PKU is 1/8.000. The incidence of mild hyperphenylalaninemia (PHE 0.12-0.59 mmol/l) in the last period when the quantitative fluorometric screening method was used, is 1/476, which is significantly (p less th. 0.0001) higher than before. One patient with 6-pyruvoyltetrahydrobiopterin synthetase (6-PTS) deficiency was diagnosed. All patients with phenylketonuria are registered at Ljubljana Medical Centre, Department of Paediatrics, Department of Endocrinology, Diabetes and Metabolic Diseases.

PKU association of Slovenia was established in 1983. It counts 120 members in the whole of Slovenia.

Each year members come together at the PKU family meeting where experiences are exchanged and new members are introduced. Owing to the smallness of association and the country itself, all families know each other.

Each summer 14 days long free of charge holidays on the Slovenian coast are organised for children in cooperation with PKU association of Slovenia and Ljubljana Medical Centre, Department of Paediatrics.

During Christmas holidays children are visited by Santa Claus.

In 2005 cookery course for PKU children and PKU teenagers will be organised with the intention to educate and stimulate their concern for taking care of their own health. We have noticed that they all willingly “assist” their parents participating cookery courses where they learn how to prepare PKU diet food.

One of the main principles of PKU association is to assure good quality of life to their members. For this reason the publications stated below were issued:

1997

- “Phenylketonuria and noutrition”. The book contains a professional description of the disease, mode of inheritance, way of keeping the diet, table of calculated values of Phe in particular food and food recipes.

2000

- “To live with Phenylketonuria”. The book gives advice to children and teenagers with PKU,

- Translation of Czech PKU cookery book,

- Brochure: “Guidebook through PKU” for educators in kindergartens and school teachers,

- Brochure: “Have you heard for Phenylketonuria?”,

Publication about planning and attending PKU women’s pregnancy is planned to be issued this year.

Planning and proper attention during pregnancy is significant for the state of health of PKU mothers-to be and their newborns.

Under the guidance of dr. Mojca Žerjav Tanšek (Ljubljana Medical Centre, Department of Paediatrics), who controls all PKU patients in Slovenia, PKU association of Slovenia has started to perform an educational programme for PKU women about planning and attending during pregnancy under medical supervision. The programme started in 2003 and is organised in the mode of one day meetings at the Slovenian countryside.

Important regular tasks of Slovenian PKU association are also:

- testing the presence of phenylalanine in low albumin products of domestic food manufacturers at the national Chemical Institute,

- active monitoring of tax, health, etc. legislation and participation in its modifications,

- free of charge distribution of PKU food to the families with low budget.

In the future PKU association of Slovenia would also like to include all people with un-treated PKU and encourage PKU teenagers to be independent in taking care of their own health.

PKU association of Slovenia is effective because of great readiness of their members to collaborate in performing all tasks, because of active support and involvement of Ljubljana Medical Centre, Department of Paediatrics and the paediatrician dr. Mojca Žerjav Tanšek.

PKU association of Slovenia is registered as self-supporting humanitarian association and is a member of E.S. PKU. Their activities are financed with the means of “Foundation of disabled and humanitarian organisations” and with the membership fees. They do not have regular sponsors.

Activities in 2004 will be rounded up by organising 18^th congress of E.S.PKU (in the restricted size) in Bled. So far, we have managed to attract some local sponsors such as Telecom Slovenia, Krka – the drug manufacturer, Hotel Valentin, to which we express our warmest thanks.

With best regards,

Ms. Natalija Stošicki

The president