Recordati Rare Diseases Academy

Advancing knowledge in rare diseases:
independent, professional, education and training

10th European metabolic course

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Heidelberg, Germany, 10-14 October 2017
Monday, November 21, 2016

Inherited metabolic diseases (IMDs) are an increasing and one of the most common groups among rare diseases. In order to provide optimal care for patients, it is essential that health professionals involved in the diagnosis and management of IMDs have a thorough understanding of these conditions. The purpose of this course is to ensure an appropriate level of knowledge for those training in this area of medicine.

This course is designed primarily for paediatricians, physicians, and laboratory scientists aiming to increase their knowledge in the area of IMDs, but is also suitable for specialist dietitians and nurses. The broad spectrum of IMDs affecting the metabolism of carbohydrates and glycoproteins, amino and organic acids, neurotransmitters, mitochondrial, lysosomal and peroxisomal disorders, will be covered by local and international experts.

The programme will include plenary lectures of international experts, case presentations of participants and smaller groups for problem-based learning style clinical and laboratory workshops.

The course will be interactive and participants are asked to submit a short case study to illustrate a particular diagnostic or clinical management problem.


  • To mediate a basic understanding of human biochemistry and the adverse effects caused by genetic disorders affecting key metabolic pathways.
  • To be aware of the variable clinical presentations that occur in IMDs focusing on differences between clinical and management aspects in children, adolescents and adults.
  • To appreciate the different analytical techniques used in the diagnosis of IMDs and to know which investigations should be used in order to reach a correct diagnosis.
  • To know which disorders are amenable to treatment and consequently require immediate consideration.
  • To know the major principles and practicalities of the emergency management of IMDs.
  • To appreciate and understand the long-term management of IMDs focusing also on aspects of transitional care and metabolic management during pregnancy.

Institutes of main organisers - providers

Centre for Childhood and Adolescent Medicine, University Hospital Heidelberg.

The book of learning is always open. The motto engraved on the Rector’s Seal is expressive of a mindset that the University of Heidelberg has done its best to honour ever since its foundation in 1386. Heidelberg is Germany’s oldest university and one of the oldest in Europe. From the outset of its foundation, more than 625 years ago, the University of Heidelberg has boasted a Faculty of Medicine. In the past centuries a huge number of internationally renowned physicians such as Helmholtz, Czerny, Erb, Krehl, zur Hausen and Bickel were part of the constant rose of the Medical Faculty. With an intake of 480 students each year, and a total number of around 3,400 beds, the University Medical Faculties (Heidelberg and Mannheim) make up one of the largest medical teaching complexes in Germany. At present, there are 175 professors and over 1,450 staff scientists teaching 4,450 medical students and 475 students of dentistry. About 600 students come from abroad. Heidelberg is an integral part of an extremely close-knit research landscape. Various collaborative research projects, a number of postgraduate research groups and flourishing collaborative partnerships with faculties and institutions abroad as well as in Heidelberg such as the German Cancer Research Centre, the European Molecular Biology Laboratory and the Max Planck Institutes of Medical Research and Cell Biology, all testify to the high standard of medical research, training and care available in Heidelberg. The Centre for Child and Adolescent Medicine has, beside others, a long-standing tradition and reputation in the field of IMDs, especially neurometabolic disorders and newborn screening. The hospital is equipped with specialized wards 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 IMDs serving physicians and institutions from all over Germany. For more 10 years, structured training for Paediatric Metabolic Medicine, certified by the UEMS, is provided. The centre coordinates various clinical network studies on a national, European an international level.

Scientifc Organising Committee

  • Prof. Dr. med. Stefan Kölker
  • Prof. Dr. med, Prof. h.c. mult. (RCH) Georg F. Hoffmann
  • Priv.-Doz. Dr. med. Dorothea Haas
  • Priv.-Doz. Dr. med. Thomas Opladen
  • Priv.-Doz. Dr. phil. Jürgen G. Okun

Contact RRD Foundation

Cecilia Kellquist
Recordati Rare Diseases Fondation d'entreprise
Immeuble ‘Le Wilson’
70 avenue du Général de Gaulle
92800 PUTEAUX, France
Telephone : +33 1 47 73 86 11
Fax : +33 1 49 00 18 00
Email :


10th October

14:00 Introduction
14:15 Quo vadis: the (re-)definition of "inborn errors of metabolism" in the era of massive parallel sequencing.
15:15 When IEM is suspected: rational diagnostic pathways for "small" and "complex molecule" metabolic disease
16:45 Newborn screening is a programme
17:45 From symptom to diagnosis assisted by IT
18:30 Inherited metabolic epilepsies

11th October

08:30 Amino acid disorders
09:00 Case: Amino acid disorder
09:30 Urea cycle disorders
10:00 Case: Amino acid disorder
11:00 Organic acidurias
11:30 Case: Amino acid disorder
13:30 Meet the experts (2 groups in parallel
W1:Movement disorders, Opladen, Assmann
W2: Dysmorphology, Banka, Moog
15:30 Lab workshops (2 groups in parallel)
W3: Amino acid analysis, Schmidt-Mader, Haas
W4: GC/MS, MS/MS, Langhans/Kohlmüller, Gramer
18:30 Lab tour

12th October

08:30 Mitochondrial fatty acid oxidation disorders
09:00 Case: Fatty oxidation disorder
09:30 Non-mitochondrial fatty acid oxidation disorders
11:00 Metabolic origin of acute liver failure
13:30 Meet the experts (2 groups in parallel)
W1: Movement disorders, Schmidt-Mader, Haas
W2: Dysmorphology, Banka, Moog
15:30 Lab workshops (2 groups in parallel)
W3: Amino acid analysis, Schmidt-Mader, Haas
W4: GC/MS, MS/MS, Langhans/Kohlmüller, Gramer

13th October

08:30 Structured communication to patients and families
09:30 Basic principles of dietary management
Sahm, Schick
10:45 Basic principles of emergency management
11:45 Meeting with patients and their families
All participants
14:00 Lost in transition? - When kids reach adulthood
15:15 Metabolic management during pregnancy
16:15 20-30 multiple choise questions

Lysosomal storage disorders

14th October

09:00 Disorders of mitochondrial energy metabolism
10:00 Disorders of carbohydrate metabolism
11:00 Feedback
Hoffmann, Kölker


Registration details

Target audience and participant profile

The course is aimed at paediatricians, physicians, and laboratory scientists aiming to increase their knowledge in the area of IMDs, but is also suitable for specialist dietitians and nurses.


The standard course fee of 600€ covers:

  • 4 nights hotel accommodation including breakfast
  • Lunch, coffee and 3 dinners during the course (1 free evening)
  • Course material and 2 books

A local fee of 420€ is granted if accommodation is not needed.

Participants are responsible for their own travel arrangements to and from the course. Fees are not refundable

Registration process and deadline

The registration form should be completed on-line and submitted with
1.your curriculum vitae in English,
2.a letter of recommendation from the head of your department, abstract illustrating a particular diagnostic or clinical management problem.

No payment is required at this stage.

Deadline for registration is 10th August 2017.

Selection criteria and review process

Candidates will be selected based on their background and experience.
The scientific organising committee will review the applications and select participants.
Selection decisions will be announced within 10 days following the deadline for registration.

CME accreditation:

An application will be made for to the EACCME for CME accreditation.