BIMDG

Special Notices
British Inherited Metabolic Disease Group

 

 

"our goal is to relieve persons suffering from inherited metabolic disease by advancing the education of persons involved in the diagnosis, care and treatment of such persons and to promote research into the treatment of inherited metabolic disease."

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Bulletins - Members Only



BIMDG Bulletin Issue 42 Autumn 2016


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BIMDG Meetings

Thursday 23 November 2017
Access to Treatment in Phenylketonuria. What is needed and why? Options, Issues, Solutions?
Radisson Blu Hotel, Liverpool

12 February 2018
BIMDG Pyridoxine Dependent Epilepsy Workshop
Leolin Price Lecture Theatre, London

Other Meetings and Events

Oct 20 - Oct 22 2017
XIVth International Congress of Paediatric Laboratory Medicine (ICPLM)
Deadline for abstracts and scholarships applications extended to 15th July 2017

6th – 9th November 2017
Masters Level : 4 Day course on the Dietetic Management of Inherited Metabolic Disorders
The Studio, Birmingham

Mon 13 and Tue 14 Nov 2017
MPS disorders - Preceptorship Medical Course
NOWGEN Centre, Manchester Royal Infirmary

21st and 22nd November 2017
ERNDIM 2017 Participant Meeting and Workshop
Manchester, UK

23 - 24 April 2018
SSIEM Academy 2018
London, UK

Inherited Metabolic Diseases

Inherited metabolic diseases comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.