"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."
Thursday 9th and Friday 10th JUNE 2022
BIMDG ANNUAL CONFERENCE 2022
Hilton Hotel, Gateshead, Newcastle upon Tyne
Wednesday 23rd March 2022
Inherited Metabolic Diseases for the Paediatrician
Bi-annual North West Metabolic Study Day
April 25th- 27th 2022
1st European Society of Human Genetics course on Precision Medicine: A Focus on Clinical Utility
Mater Misericordiae University Hospital, Dublin
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.