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."
BIMDG Membership
BIMDG on Twitter
Bulletin - Open Access
BIMDG Meetings
Friday 27th September 2024
Future of newborn Screening for Metabolic Disorders
BIMDG WORKSHOP - AGENDA AND BOOKING FORM NOW AVAILABLE
Other Meetings and Events
Friday 25th October 2024
ESPKU Professional meeting
Porto, Portugal
28 Nov - 30 Nov 2024
Cell trafficking and complex lipids - RRD Foundation
Rome, Italy
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.