"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 42 Autumn 2016
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12 February 2018
BIMDG Pyridoxine Dependent Epilepsy Workshop
Leolin Price Lecture Theatre, London
Thursday 25 January 2018
Adult Metabolic Study Day
Salford Royal Hospital
8-9 March 2018
Inherited disorders of metabolism affecting the liver: management and outcome
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.