Management of phenylketonuria in Europe: survey results from 19 countries

To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire, consisting of 33 questions, was sent to 243 PKU professionals in 165 PKU centers in 23 European countries. The responses were compiled and descriptive analyses were performed. One hundred and one questionnaires were returned by 93/165 centers (56%) from 19/23 European countries (83%). The majority of respondents (77%) managed patients of all age groups and more than 90% of PKU teams included physicians or dieticians/nutritionists. The greatest variability existed especially in the definition of PKU phenotypes, therapeutic blood phenylalanine (Phe) target concentrations, and follow-up practices for PKU patients. The tetrahydrobiopterin (BH4; sapropterin) loading test was performed by 54% of respondents, of which 61% applied a single dose test (20mg/kg over 24h). BH4 was reported as a treatment option by 34%. This survey documents differences in diagnostic and treatment practices for PKU patients in European centers. In particular, recommendations for the treatment decision varied greatly between different European countries. There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline.

Masticatory function and nutrition in old age

Nowadays, many people retain their natural teeth until late in life as a result of the large success of preventive strategies. However, there is still a very high prevalence of edentulism especially in elderly patients and many of these patients are provided with inadequate dental prostheses. In addition, many elderly citizens suffer from systemic diseases leading to increased drug prescription with age. This may have direct or indirect negative effects on the health and integrity of oral tissues like teeth, mucosa or muscles. There is growing evidence that a close interaction between the general medical condition and oral health exists. From a dental point of view, the chewing ability and capacity and its interaction with the nutritional status seem to be especially important. For example, complete denture wearers present a significant oral disability, which often leads to a gradual deterioration of their individual dietary habits. The improvement of maximum bite force and chewing efficiency may be an important prerequisite for an adequate nutrition. Those functional parameters can often be improved by providing functional dental prostheses or by stabilizing complete dentures with endosseous implants. Nevertheless, an improvement of the nutritional status can only be achieved through a close collaboration with dieticians or clinical nutritionists.