Dear Colleagues,

The aim is to give the participants the opportunity to listen to lectures on current hot topics and to share their experiences through case reports.

Patients are monitored from paediatric to adult life and gradually an extensive data base of long-term outcome data is being established in inborn errors of metabolism. Sometimes the outcome is not as expected so it is important this is reviewed, and existing dietetic practice is challenged and modified accordingly.

This event will mainly be focused on PKU in adulthood with particular attention to neurocognitive outcomes, nutrition in adult PKU patients and the influence of this disease on the mindset of the patient. It will also face the problem of the nutrition support in IMD, with a focus on lysosomal disorders and nutrition in reproductive years in IMD and emergency management of this disease.

This meeting will discuss case reports from clinical practice with the aim of promoting active participating and a sharing of individual practice.

 

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GENERAL INFORMATION

SCIENTIFIC COMMITTEE

MacDonald Macdonald Anita
Birmingham Children’s Hospital, UK

Burlina Burlina Alberto
Director Division of Inherited Metabolic Diseases
Reference Centre Expanded Newborn Screening
DIDAS Servizi di Diagnostica Integrata
University Hospital of Padova, Italy

Nicola Nicola Orejas Gabriela Noemi
Hospital Universitário Son Espases
Palma de Mallorca, Spain

Rocha Rocha Júlio César
NOVA Medical School | Faculdade de Ciências Médicas
Universidade Nova de Lisboa
Reference Centre of Inherited Metabolic Diseases | Centro Hospitalar
Universitário de Lisboa Central, Lisboa, Portugal
CINTESIS - Center for Health Technology and Services Research, Portugal

CREDITS RECIPIENTS

Surgeon specialized in: Endocrinology, Metabolic diseases, Pediatrics, Pediatrics (free choice pediatricians), Food science.

Dietist.



LECTURES

Neurocognitive outcomes of adult PKU patients
Filippo Manti

Managing adults with PKU: a dietetic consensus
Louise Robertson

Understanding the adult mindset gaining adherence in adulthood
Chiara Cazzorla

Lysosomal disorders: the role of nutritional therapy
Alberto Burlina

Nutrition in reproductive years in IMD - what are the considerations?
Júlio César Rocha

Emergency management in adulthood
Corrie Timmer

FACULTY


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