"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."
08 October 2015
Mental Health Masterclass II
Noah's Ark Childrens Hospital University Hospital of Wales, Cardiff
1st-4th September 2015
SSIEM 2015 Annual Symposium
Society for the Study of Inborn Errors of Metabolism
22nd – 25th October 2015
E.S.PKU Conference 2015
03 Nov - 06 Nov 2015
Paediatric Dietetics Course : ADV720/Module 4
Dietetic Management of Inherited Metabolic Disorders
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.