Excellence in Pediatrics Institute (EIP)

The Excellence in Pediatrics Institute have developed 12 free webinars in their Spot the Early Signs Series covering the basics of MLD, practical neurological case studies that offer the opportunity to connect the theory with the practice and treatment options. Please follow this link.

They have also developed 12 free Spot the Early Signs of Alpha-mannosidosis webinars which can be accessed here.

Additionally there are 42 free Spot the Early Signs of MPS webinars which can be accessed here.

 Explore the latest career opportunities from organizations in the inborn errors of metabolism field. More details below.

American College of Medical Genetics (ACMG)
http://www.acmg.net/

Association for Laboratory Medicine
https://labmed.org.uk/

Belgian Association for Inborn Errors of Metabolism
http://www.boks.be/

British Nutrition Foundation
http://www.nutrition.org.uk/

European Society of Paediatric and Neonatal Intensive Care (ESPNIC)
https://www.espnic.eu/ 

Federation of American Societies for Experimental Biology
http://www.faseb.org/

Federation of European Biochemical Societies
http://www.febs.org/

Garrod Association
http://www.garrod.ca/

Genetic Metabolic Dietitians International
http://www.gmdi.org/
The mission of GMDI is to provide standards of excellence and leadership in nutrition therapy for genetic metabolic disorders through clinical practice, education, advocacy, and research.

International Society for Neonatal Screening (ISNS)
http://www.isns-neoscreening.org/

Japanese Society of Inherited Metabolic Diseases (JSIMD)
https://jsimd.net/en/ 

Archives of Disease in Childhood
http://adc.bmj.com/

Elsevier Science
http://www.elsevier.nl/

European Journal of Paediatrics
https://www.springer.com/journal/431

Journal of Inherited Metabolic Disease
https://onlinelibrary.wiley.com/journal/15732665

Journal of Pediatrics
http://www.jpeds.com/

Molecular Genetics and Metabolism
http://www.sciencedirect.com/science/journal/10967192

Nature
http://www.nature.com/

New England Journal of Medicine
http://www.nejm.org/

New Scientist
http://www.newscientist.com/

Science
http://www.sciencemag.org/

Springer
http://www.springer.com

The British Medical Journal
http://www.bmj.com/

The Lancet
http://www.thelancet.com/

Association for Glycogen Storage Disease, UK
http://www.agsd.org.uk/

BIOPKU
http://www.biopku.org
All you need to know about BH4.

Children living with inherited metabolic diseases – Now Metabolic Support UK
https://metabolicsupportuk.org/ 

Cochrane Cystic Fibrosis and Genetic Disorders Group
https://cf.cochrane.org/ 

Congenital Disorders of Glycosylation (CDG)
http://www.euroglycanet.org/

Databases of Pediatric Neurotransmitter Disorders inc. PKU
http://www.biopku.org

European Directory of DNA Laboratories
http://www.eddnal.com/

Fatty Oxidation Disorders (FOD) Family Support Group
http://www.fodsupport.org/

Gauchers Association, UK
http://www.gaucher.org.uk/

KUMC Genetics Education Center
http://www.kumc.edu/gec/

Metab-L Mailing List
http://www.daneel.franken.de/metab-l/

Mitochondria Research and Medicine Society
https://www.facebook.com/mitoresearchandmedicine 

Mitochondrial Medicine Society (MMS)
http://www.mitosoc.org/

National Metabolic Biochemistry Network
http://www.metbio.net/

National Niemann-Pick Disease Foundation
http://www.nnpdf.org/

National Organization for Rare Disorders (NORD)
http://www.rarediseases.org/

National Society for Phenylketonuria
http://www.nspku.org

OMIM -- Online Mendelian Inheritance in Man
http://www.ncbi.nlm.nih.gov/omim

Organic Acidemia Association
http://www.oaanews.org/

Orphan Europe Academy
http://www.orphan-europe-academy.com/

Orphanet
http://www.orpha.net/consor/cgi-bin/index.php
ORPHANET is a database dedicated to information on rare diseases and orphan drugs.

Pediatric Neurotransmitter Disease Association
http://www.pndassoc.org/

PKU Academy
PKU Academy presents invaluable opportunities to learn about PKU through many educational resources and online programs. In the Academy section of the website, healthcare professionals can access e-learning courses containing basic information about phenylketonuria. Users also have access to a glossary of important terminology in PKU, a calendar of events and links to international societies dedicated to inherited metabolic disorders.

PKU World Link
http://www.pkuworldlink.org/

The Lullaby Trust
https://www.lullabytrust.org.uk/

The Pompe's Disease Page
http://www.pompe.org.uk/

The Society for Mucopolysaccharide Diseases Home Page
https://mpssociety.org.uk/

United Mitochondrial Disease Foundation
http://www.umdf.org/

AADC Research Trust
http://www.aadcresearch.org

BIOPKU
http://www.biopku.org
All you need to know about BH4.

CDB-IMD
https://imd-casesdatabase.org

Databases of Pediatric Neurotransmitter Disorders inc. PKU
http://www.biopku.org

ERNDIM
http://www.erndim.org/

Human Gene Mutation Database
https://www.hgmd.cf.ac.uk

IEMbase
http://www.iembase.org 
IEMbase's profile can be found here.

MITOMAP: A mitochondrial DNA database
http://www.mitomap.org/MITOMAP

Mutation Database for X-linked Adrenoleukodystrophy
http://www.x-ald.nl/

A HIERARCHICAL CLASSIFICATION FOR INBORN ERRORS OF METABOLISM

Classification Download (Updated 2012)

Inborn errors of metabolism that belong to the same biochemical pathway often have similar clinical features, are detected by the same diagnostic procedures (basic and special diagnostic tests), and are treated according to similar principles of emergency intervention and long-term management.

These clinical aspects are reflected in the SSIEM classification of Inborn Errors of Metabolism which groups the large number of individual conditions according to their respective biochemical pathways or disease groups as well as common pathophysiological mechanisms.

The SSIEM classification can be used for learning and understanding inborn errors of metabolism, provides a framework for textbooks (such as the Vademecum Metabolicum) and is expected to form the basis of the classification of inherited metabolic disorders in the forthcoming 11th edition of the international classification of diseases (ICD11).

If you have any comments or questions or suggestions please feel free to contact us.

Dr Johannes Zschocke
(2012)