Neurotransmitter focus course

This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems.

Participants will be encouraged to provide abstracts for case presentations.

LEARNING OBJECTIVES

• Learn about the clinical presentation of inborn errors of neurotransmitter, BH4 and folate metabolism.
• Understanding of biochemical pathways related to the disorders.
• Awareness of the critical issues and pitfalls in the diagnostic work-up and treatment of these diseases.
• Awareness of the benefits and limitations of classical treatment concepts and understanding of novel and future therapeutic strategies.

PROVIDER ORGANISATION

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.

UNIVERSITY HOSPITAL FOR CHILDHOOD AND ADOLESCENT MEDICINE, HEIDELBERG

The University Hospital for Childhood and Adolescent Medicine in Heidelberg has a long-standing tradition and reputation in the field 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 specific experience in the field 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 new-born 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.

UNIVERSITY HOSPITAL PADUA

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 new-born.
• 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.