"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."
16th October 2014
Mental Health Masterclass
Working with children and young people with inherited metabolic disorders
SSIEM-DG meeting – Wednesday 10.30-12am
12-15th October 2014
ISNS 2014 - The 9th International Society for neonatal Screening European Meeting
Wednesday 15th October and Thursday 16th October 2014
Dietary Management of Adults with Inherited Metabolic Disorders (Course)
24th-25th October 2014
E.S.PKU Conference 2014
4th-7th November 2014
Dietary Management of Inherited Metabolic Disorders - ADV720/Module 4
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.