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."

BIMDG on Twitter
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Bulletins - Members Only



BIMDG Bulletin Issue 42 Autumn 2016


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BIMDG Meetings

Thu 21 June - Fri 22 June 2018
BIMDG Annual Meeting 2018
Nottingham - Call for abstracts and Registration

Other Meetings and Events

Friday 29th June 2018
Festschrift for Professor Chris Hendriksz
The Lighthouse, Manchester

Thursday 5th July 2018
Queen Square Advances in Mitochondrial Medicine 2018
Centre for Neuromuscular Diseases, London

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.