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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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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.