Homocystinurias and defects of folate and methylation metabolism: practical approaches to diagnosis and treatment.

Prague, 29 February – 2 March 2016

Course description

Metabolism of sulfur amino acids is intertwined with metabolism and transport of folates and several B- vitamins. This course will give an overview of sulfur amino acids metabolism and of related sulfur containing compounds and its dependence on functional B-vitamin processing. Further topics will include detailed description of inborn errors of metabolism of sulfur amino acids and B-vitamins, association of B-vitamin disturbances with common disorders, diagnostic algorithms for hyperhomocysteinemias and methylation disorders including new-born screening strategies. The organizers and faculty will strongly support discussion about cases presented by the course participants.

  • Learning objectives
  • Understanding the elements and interactions in the methylation, transsulfuration and remethylation pathways.
  • Understanding metabolism of related B- vitamins.
  • Knowledge on frequency, pathophysiology, clinical manifestation, diagnosis and treatment of homocystinurias, methylation defects and genetic disorders of B-vitamin metabolism.
  • Insight into the role of B-vitamins in common disorders.
  • Insight into the principles and efficacy of new-born screening programs, and knowledge on efficacy of early intervention.

Familiarizing with practical issues in diagnosing and treating patients with CBS deficiency and remethylation disorders. Institutes of main organisers – providers – Charles University in Prague-First Faculty of Medicine and General University Hospital, Institute of Inherited Metabolic Disorders – Albert-Ludwigs University Freiburg Scientific Organising Committee – Prof. Henk Blom, Albert-Ludwigs- University Freiburg, Freiburg, Germany – Prof. Brian Fowler, Childrens ́University Hospital, Zürich, Switzerland – Prof. Martina Huemer, Childrens ́University Hospital, Zürich, Switzerland – Prof. Stefan Kölker, University Childrens ́ Hospital, Heidelberg, Germany – Prof. Viktor Kožich, Charles University in Prague-First Faculty of Medicine, Prague, Czech Republic

Target audience and participant profile

The target audience of this advanced course involves metabolic physicians, paediatricians, neurologists, haematologists and other clinical specialist as well as laboratory scientists- biochemical geneticists, biochemists and laboratory geneticists. Participants are expected to have some prior knowledge about the field, practical experience with diagnosis and/or treatment is recommended. Participants are expected to present a case report relevant to the theme of the course; cases with diagnostic and/or therapeutic dilemmas are especially welcome.


The course fees of 450€ cover2 nights hotel accommodation including the meals during the course. A local fee of 315€ 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: www.rrd-foundation.org and submitted with your curriculum vitae in English. No payment is required at this stage. Deadline for registration is 15th January 2016.

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 to the EACCME for CME accreditation.