"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 10 November 2016
Metabolic Regional Study Day
CPD Accredited Paediatric and Young People Study Day
Thursday 24th November 2016
BIMDG PKU Guidelines Workshop
A workshop to discuss the new European PKU guidelines and their implementation in the UK
8th – 11th November 2016
Paediatric Dietetics Course Module 4 ADV720
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.