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

December 5th 2016
BIMDG Galactosaemia Workshop
Brunel Building, Southmead Hospital, Bristol

Other Meetings and Events

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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.