Course description

This course is aimed at paediatricians with at least 4 years clinical experience in paediatric metabolic medicine. The course is intended to be interactive and participants are asked to present a short case study to illustrate a particular diagnostic or clinical management problem. The programme is divided into three parts:

1. Main lectures by invited speakers.
2. Presentations by participants.
3. Interactive workshops (problem-based learning style).

LEARNING OBJECTIVES:
 

• Appreciation of different national newborn screening programmes, limitations of the methodology and the technical, political and social barriers to an international harmonisation.
• Awareness of the critical issues and pitfalls in the diagnostic work-up and treatment of IEM’s.
• Awareness of the benefi ts and limitations of “classical” treatment concepts.
• Understanding of novel and future therapeutic strategies for complex molecule diseases, including enzyme replacement, substrate reduction, chaperone therapy, transplantation, and gene therapy.
• Awareness of plausible futures in IEM based on the understanding of energy metabolism, and pathophysiology and potential therapies.
• Improvement of communicative skills (information about diagnosis and prognosis).
• Understanding of the ethical aspects of presymptomatic diagnosis (newborn screening) and treatment of orphan diseases.

University Hospital for Childhood and Adolescent Medicine of Heidelberg and University Hospital of Padua

This course is organised in joint collaboration between the University Hospital for Childhood and Adolescent Medicine of Heidelberg and the University Hospital of Padua. The course will be held on the San Servolo Island in cooperation with the Venice International University.

The University Hospital for Childhood and Adolescent Medicine in Heidelberg has a long-standing tradition and reputation in the fi eld of inborn errors of metabolism, especially neuro-metabolic disorders. At present, more than 400 patients with inborn errors of metabolism are followed and treated. There exists a professional team of physicians and scientists, nurses, dieticians, psychologists and social workers with specifi c experience in the fi eld of inborn errors of metabolism. The hospital is equipped with a separate ward for patients with metabolic and endocrinological problems, a huge outpatient clinic, a newborn screening laboratory, various research facilities, and one of the largest laboratories for the biochemical and molecular diagnosis of nearly all inborn metabolic diseases serving physicians and institutions from all over Germany.

The Division of Metabolic Disorders at the department of Paediatrics is part of the General Hospital of Padua providing healthcare services counting 8,412 hospital and 4,086 day hospital admissions. Within the Department of Paediatrics is the Division providing extensive services for families and children with metabolic disease. The University Hospital is involved in teaching and research activities, especially clinical and translational research, postgraduate programmes and continuing medical education courses. Research in the metabolic disease area includes:

• Epidemiological studies applying new neonatal screening methods to assess the frequency of some diseases that develop acutely in the newborn.
• Organic acid disorders and laboratory methods to identify new disorders.
• Carbohydrate disorders, description of a new disease with hyperinsulinaemia and hyperammonaemia.
• Disorders of cerebral neurotransmitters.