SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

Komrower Commemorative Lectures

 

Year   

Place

Speaker

Title

2022

Freiburg

Prof Dr B Plecko

On pathways and blind alleys

2021

Virtual meeting  

Prof K Ounap

The identification of new rare metabolic diseases: an example of the tremendous impact on Estonia’s detection rate by new technologies

2020  

Virtual meeting 

Prof E Van Schaftingen   

Elucidating the causes of metabolic disorders: the new veins to explore

2019

Rotterdam

Dr C Vianey-Saban

From fatty acid oxidation to riboflavin Make metabolites great again

2018

Athens

Prof P T Clayton

Restoring missing metabolites: from bile to acid to B6

2016

Rome

Prof M Zeviani

Mitochondrial Disorders, a journey through the magic circle and beyond

2015

Lyon

Prof B T Poll-The

Peroxisomal disorders and more…: Why I have not stopped examining patients

2014

Innsbruck

Prof G Brown

A wide circle around lactic acid

2013

Barcelona

Dr C Dionisi-Vici

The daily challenge of understanding and treating metabolic disorders in children

2012

Birmingham

Prof R J A Wanders

Inborn errors of metabolism including peroxisomal diseases in a changing world of omics and systems biology

2011

Geneva

Dr M T Vanier

Lysosomal neurolipidoses: the enigmas and the challenges

2010

Istanbul

Prof B Wilcken

Newborn Screening: How are we travelling? Where we might get to?

2008

Lisbon

Prof N Gregersen

Mitochondrial fatty acid oxidation defects, remaining challenges

2007

Hamburg

Prof W S Sly

Evolution of therapy for lysosomal diseases

2005

Paris

Prof J Leonard

The treatment of inborn errors of metabolism

2004

Amsterdam

Prof M Gibson

Gamma-hydroxybutyric aciduria: a biochemist’s education from a heritable disorder of GABA metabolism

2002

Dublin

Prof J Jaeken

Congenital disorders of glycosylation: its all in it

2001

Prague

Prof H Galjaard

New names for old disciplines

1999

Genova

Prof J M Saudubray

Genetic hypoglycaemia

1998

York

Prof D Valle

Ornithine metabolism, metabolic network and normal biology

1997

Gothenburg

Prof S J Segal

Galactosaemia today: the enigma and the challenge

1996

Cardiff

Dr A M Spiegel

Inborn errors of signal transduction mutations in G Protein-coupled receptors as a cause of disease

1995

Toledo

Dr G Salem

Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome

1994

Edinburgh

Prof H W Moser

Adrenoleukodystrophy, natural history, treatment and outcome

1993

Manchester

Prof J P Kraus

Molecular basis of phenotype expression in homocystinuria

Komrower Commemorative Lectures

KOMROWER COMMEMORATIVE LECTURES

 

Year Place Speaker Title
2021      
2020 Virtual Meeting Prof E Van Schaftingen Elucidating the causes of metablic disorders: the new veins to explore
2019 Rotterdam Dr C Vianey-Saban

From fatty acid oxidation to riboflavin 
Make metabolites great again

2018 Athens Prof P T Clayton  Restoring missing metabolites: from bile acid to B6
2016  Rome  Prof M Zeviani  Mitochondrial Disorders, a journey through the magic circle and beyond
2015 Lyon Prof B T Poll-The Peroxisomal disorders and more…: Why I have not stopped examining patients
2014  Innsbruck Prof G Brown  A wide circle around lactic acid 
2013  Barcelona  Dr C Dionisi-Vici  The daily challenge of understanding and treating metabolic disorders in children 
2012  Birmingham  Prof R J A Wanders  Inborn errors of metabolism including peroxisomal diseases in a changing world of omics and systems biology
2011 Geneva Dr M T Vanier Lysosomal neurolipidoses: the enigmas and the challenges
2010 Istanbul Prof B Wilcken Newborn Screening: How are we travelling? Where we might get to?
2008 Lisbon Prof N Gregersen Mitochondrial fatty acid oxidation defects, remaining challenges
2007 Hamburg Prof W S Sly Evolution of therapy for lysosomal diseases
2005 Paris Prof J Leonard The treatment of inborn errors of metabolism
2004 Amsterdam Prof M Gibson Gamma-hydroxybutyric aciduria: a biochemist’s education from a heritable disorder of GABA metabolism
2002 Dublin Prof J Jaeken Congenital disorders of glycosylation: its all in it
2001 Prague Prof H Galjaard New names for old disciplines
1999 Genova Prof M Saudubray Genetic hypoglycaemia
1998 York Prof D Valle Ornithine metabolism, metabolic network and normal biology
1997 Gothenburg Prof S J Segal Galactosaemia today: the enigma and the challenge
1996 Cardiff Dr A M Spiegel Inborn errors of signal transduction mutations in G Protein-coupled receptors as a cause of disease
1995 Toledo Dr G Salem Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome
1994 Edinburgh Prof H W Moser Adrenoleukodystrophy, natural history, treatment and outcome
 1993 Manchester  Prof J P Kraus  Molecular basis of phenotype expression in homocystinuria



Guidelines Development Support

SSIEM announces as a new initiative the support for guideline development.

SSIEM members interested in this should follow the application process in the attached form.

Please submit the completed form at any time to the Honorary Secretary SSIEM. Your proposal will be evaluated by a committee from SSIEM Council members. The final decision will be made at the next forthcoming Council meeting (these meetings are held each in March, July, September, and December) and thereafter communicated to you.

Application form

Contact SSIEM Honorary Secretary

 

2024

Approved 18 January

Carlo Dionisi-Vici  / Martina Huemer
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
€ 20,000.00

Completion Date January 2026

 

2021

Approved 3 June

Bernd Schwahn
Consensus guidelines for the diagnosis and management of sulphite intoxication disorders: isolated sulphite oxidase deficiency and molybdenum cofactor deficiencies
€ 20,000.00

Completion Date November 2023

Approved 22 June

Emma Footitt / Philippa MIlls
The Diagnosis and Management of Pyridoxamine 5’ Phosphate Oxidase (PNPO) deficiency 
€ 20,000.00

Completion Date Extended March 2025

 

2020

Approved 23 March

Ute Spiekerkötter
Consensus Guideline for the diagnosis and management of long-chain fatty acid oxidation defects
€ 20,000.00

Completion Date Extended November 2024

 

2019

Approved 3 September

Patrick Forny & Matthias Baumgartner
Update MMA/PA Guidelines
€ 10,000.00

Completion Date April 2021

Symposium Travel Scholarship Application

OPENING DATE

Applications will be accepted between 02 Feb 2019 and 30-Mar-2019 (Midnight GMT)

Symposium Travel Scholarship Application

Please read requirements shown below and ensure you have all the documents ready before proceeding

APPLY ONLINE NOW

Previous Awardees

 

johannes haeberlebp 8878 new   2019

Prof Dr Med Johannes Haberle 
Zurich
Switzerland

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders
Download Publication

Additional Information

Epub 2018 Mar 8; 2018 Jul;41(4):689-698. doi: 10.1007/s10545-018-0157-4

 

 

 

  2018

Ass Prof Melanie Gillingham
Portland
USA

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded randomized controlled trial
Download Publication

Additional Information

J Inherit Metab Dis. 2017; 40:831–843

 

 

  2017

Dr Terry Derks
Groningen
The Netherlands

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Download Publication

Additional Information

J Inherit Metab Dis. 2016; 39:697-704

 

 

  2016

Prof Shamima Rahman
London
United Kingdom

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Download Publication

Additional Information

J Inherit Metab Dis. 2015; 38:445-457

 

 

  2015

Dr Yannis Trakadis
Montreal
Canada

Update on transcobalamin deficiency: clinical presentation, treatment and outcome
Download Publication

Additional Information

J Inherit Metab Dis. 2014; 37:461-473

 

 

  2014

Dr F Sedel
Paris
France

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
Download Publication

Additional Information
J Inherit Metab Dis. 2013;36:859-68

 

 

  2013

Dr SE Waisbren
Boston
USA

The adult galactosemic phenotype.
Download Publication

Additional Information
J Inherit Metab Dis. 2012;35:279-86

 

 

  2012

Dr M del Socorro Perez Poyato
Barcelona
Spain

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Download Publication

Additional Information
J Inherit Metab Dis. 2011;34:1083-93

 

 

  2011

Prof Dr F A Wijburg
Amsterdam
The Netherlands

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
Download Publication

Additional Information
J Inherit Metab Dis. 2010;33:759–67

 

 

  2010

Dr Friederike H�rster
Heidelberg
Germany

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Download Publication

 

 

  2009

Prof Dr Ute Spiekerkoetter
Dusseldorf
Germany

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects:results from a workshop
Download Publication

 

Membership

Membership of the Society is open to all interested in and willing to support the aims of the Society.

 Membership 2024      User Profile

 

SSIEM Administrator

Society for the Study of Inborn
Errors of Metabolism (SSIEM)
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United Kingdom

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The Society for Study of Inborn Errors of Metabolism,
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