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

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Other Meetings and Events

Friday 26 October 2018
Complex Epilepsy Study Day
London

1st to 4th November 2018
ESPKU Venice conference - call for abstracts
Abstracts deadline 01 August 2018 for ESPKU conference

6th - 9th November 2018
Paediatric Dietetics Module 4 ADV740
Dietetic Management of Inherited Metabolic Disorders (London)

Friday 24 November 2018
Complex Epilepsy Study Day
Dublin

Wednesday 28 November 2018
Complex Epilepsy Study Day
Taunton

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.