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Workshop sessions

Workshop sessions
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)

Resource type

Article

workshop sessions

Delegates at the 2014 Annual Multidisciplinary European PKU Symposium participated in three workshop sessions to explore current practice in PKU management.

Maternal PKU — interactive clinical case presentations

maternal pku

This workshop, led by Prof Friedrich Trefz1 and Ms Louise Robertson2 looked at the importance of managing maternal PKU (MPKU) and focused on practical actions that can be taken to improve outcomes.

Prof Trefz reminded participants that untreated MPKU can lead to a number of birth defects including: heart malformations, esophageal atresia, renal agenesis, Potter syndrome, anencephalus and cleft palate. Ideally, dietary treatment should start before conception. For planned pregnancy, women should be encouraged to use contraception until they have achieved Phe levels <360µmol/L.

Ms Robertson focused on the care needed by the mother. Throughout pregnancy, support and education is essential.  It is vital to ensure that the diet provides adequate energy for appropriate weight gain and that the protein demand is met by Phe-free L-amino acids. Phe levels need to be monitored closely (at least twice a week). Adequate folic acid supplementation should be provided. Breastfeeding should be encouraged.

European and USA guidelines — controversies

european and usa guidelines

The workshop led by Prof Francjan van Spronsen3, Dr Alberto Burlina4 and Prof Nicola Longo5 looked at the principal challenges to reaching consensus in the formulation of regional, Europe wide and worldwide guidelines for the management of PKU. The workshop explored issues relating to:

defining PKU and the development of a simplified classification schemedefining ‘expert PKU’ centers
defining the Phe level at which PKU treatment should be started.

At present, classification of PKU is usually based on pre-treatment Phe or Phe tolerance. A simplified classification is under consideration:

  • patients who need strict dietary treatment (PKU)
  • patients who do not need any treatment (mild HPA)
  • patients who may be treated with BH4, either alone or in a combination with diet (BH4-responsive PKU).

 

The definition of an expert center is usually based on the number of patients (experience) and proven research from that center. But, what should the minimum number of patients be for a center to be expert, >50, >200 or somewhere in-between?

And finally, what is the basis for the optimal Phe level? Are there parameters to include in follow-up beside absolute Phe level? What is the role of Tyr supplementation?

Diet plus sapropterin in clinical practice — Interactive clinical case presentations

diet plus sapropterin

The workshop lead by Dr Amaya Bélanger-Quintana6 and Dr Margreet van Rijn7 focused on adapting the PKU-diet for use with sapropterin. Among the points discussed, participants considered that:

  • it is important to reassess Phe tolerance before beginning treatment with sapropterin as the recorded Phe tolerance of the patient may not have been tested for some time and may have increased
  • sapropterin treatment is much more than a certain number of tablets each day. The correct balance of medicine and the best diet for the patient must be identified
  • patients taking sapropterin require counselling by healthcare professionals using an individual approach
  • changing conditions might require that the treatment needs to be re-evaluated
  • a small amount of Phe mixture can help get better control
  • sapropterin does not change compliance issues and may even require more attention from patients and caretakers to achieve a better outcome.

1 - Prof Friedrich K. Trefz (Children’s Hospital, Kreis Kliniken Reutlingen GmbH, Klinikum am Steinberg and School of Medicine, University of Tübingen Reutlingen, Germany)

2 - Ms Louise Robertson (University Hospitals Birmingham NHS Foundation Trust, Old Queen Elizabeth Hospital, Birmingham, UK)

3 - Prof Francjan J. van Spronsen (Beatrix Children’s Hospital, University Medical Centre Groningen, Groningen, The Netherlands)

4 - Dr Alberto Burlina (Division of Metabolic Diseases, Department of Pediatrics, University Hospital Padua, Padua, Italy)

5- Prof Nicola Longo (Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA)

6 - Dr Amaya Bélanger-Quintana (Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Ramón y Caja, Madrid, Spain)

7 - Dr Margreet van Rijn (Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands)

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Target audience
Paediatricians, Dietitians, nutritionists, Scientists, Healthcare professionals
EACCME®
by Excemed
Endocrinology and metabolism