"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 Bulletin Issue 43 Winter 2018
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Wed 26 - Thu 27 June 2019
BIMDG Annual Symposium 2019
Registration now open
Wednesday 6 March 2019
The All Wales Inherited Metabolic Disease Study Day
Cardiff - updated 22 Nov
Friday 12th April 2019
Rotunda Hospital, Dublin
13 May 2019 - 15 May 2019
RCPCH Conference and Exhibition 2019
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.