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3rd Dietitians workshop on PKU

3rd Dietitians workshop on PKU
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)

Resource type


Anita MacDonald, scientific organizer, welcomed over 100 participants coming mostly from Europe, eastern and middle-east countries, but also from south America and Canada. Interestingly, the profile of delegates revealed an audience half of which were physicians with a great interest in the dietetic and nutritional aspects of PKU management and the other half dietitians, nutritionists and also psychologists.

rochaJulio Rocha (Portugal) highlighted the epidemic of obesity in the general population from childhood onwards, with cardio-metabolic diseases later in life, and raised the question whether this is even more frequent in PKU patients. Measuring obesity is not easy, z-score of BMI is acceptable as indirect index, by using national age-reference charts, otherwise direct methods, such as DEXA, BIA and plethysmography or even NRM, are way more accurate in evaluating abdominal/visceral fat tissue.

Hulya Gokmen-Ozel (Turkey) discussed the factors that could favor obesity in PKU children, such as increased total daily caloric intake, due to high carbohydrate and fat but low protein content in their diet and in supplements, and reduced physical activity, because of psychological issues. The preliminary data from the ENEP group study seems to confirm this fact, with percentages 15-34% below 18 years while 23-52% above it, with girls more prone in early ages but boys later in life.

Bone mineral density appears reduced from several studies in PKU patients from early years , of about 0.5-1.0 SD less than control subjects, said Martijn de Groot (The Netherlands). Possible causes are: altered bone protein matrix, deficit of minerals and vitamins, toxicity of high phe on bone turn over cells. Whether this fact could increase the risk of fracture with ageing is not known yet, but monitoring by DEXA and biochemical parameters is important to implement therapies if needed.

Kees de Graaf  (The Netherlands) explained how taste preferences are built soon, from birth up to 6 months, then remain quite stable in life. Some factors can influence that, such as cultural, health-related and social behaviors. To modify taste preference, repetitive exposure to certain foods in a short period can help in children up to 3-4 years of age, whilst later on is very difficult. This is even more true for PKU patients, as the taste and smell of new low-phe foods and supplements can be very unpleasant.

Management of PKU adult patients from the nutritional perspective is very challenging, said Sarah Boocock (UK), who presented a study on over 100 subjects  in which best results were obtained by using a dynamic approach consisting of a range influences such as frequent reminders; social media ; psychological support, especially in pregnant women; special access to hospital and care, including home visits ; frequent follow-up for blood analysis ; diet adherence and monitoring by nutritionists.

Some original contributions were then presented, the first one by Annie Spiewak (France) reporting a study showing the efficacy of an educational tool, ‘le Phetout’, in helping PKU patients and families in calculating phe content in different foods, thus achieving better phe levels and diet adherence. A newer version of it, with wider food options, is being developed. The second presentation by Amaya Belanger-Quintana (Spain), reported preliminary results from a European multi-centric study evaluating body growth in PKU children, by which 57% of them seem to grow as expected, 23% to grow less than expected, and a similar percentage even more than expected.

Guidelines are urgently needed for PKU management, said Annet M. Bosch (The Netherlands), from the adherence group of the E.S. PKU highlighting the main questions that should be solved to improve adherence to treatment and monitoring of patients while preserving quality of life. Psychology support, better communication among healthcare givers, patients and families, and tailored follow-up approaches can help achieving each individual best psychosocial outcome.

Kirsten Ahring (Denmark), on behalf of the nutrition group, discussed the major problems that require standardized recommendations on the best nutritional strategies in PKU, from correct low protein foods and amino acids to proper micronutrient supplements, to guarantee adequate phe levels.  Conditions such as pregnancy, breastfeeding and parental nutrition as well as adequate nutritional monitoring, also have to be redefined to implement the diet and avoid systemic consequences.  

Eric Lange (UK), president of the E.S. PKU, reinforced the call for guidelines for PKU management, bringing the audience’s attention on patients and families’ needs and rights. Uniform, optimal and accessible care for all PKU patients is the main goal, achievable via mandatory new born screening, validated diagnostic tests, definition of target phe levels per age, equal access to drug and foods, use of common algorithms of treatment, and creation of multidisciplinary centers of excellence.

A perspective in the dietary management from different countries’ administrations was presented. Margreet van Rijn, from The Netherlands, outlined the good results obtained in disease screening and patient follow up, including blood sample collection for phe levels’ monitoring. But still the cost of the special foods is on the PKU patients. Mϋbeccel Demirkol, from Turkey, described the cultural and social obstacles to achieving proper care of PKU patients, with poor adherence to treatment and follow-up visits and testing, but underlined that the government pays the phe-free formula. Ida Schwartz, from Brazil, highlighted the many challenges a developing country faces in setting up a health care system for this specific disease, from the screening to the reimbursement of the phe-free formula, that is limited for each PKU patient. Maria Gizewska, from Poland, reported  improvements in her country, after long effort, in achieving a good standard of care in PKU, but still the government covers only protein substitutes while phe-free foods are paid by the patients.

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İstanbul, Turkey
Mar 14, 2013
Target audience
Dietitians, nutritionists, Healthcare professionals
by Excemed
Endocrinology and metabolism