"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."
27th April 2016, 10.30 am - 4.00 pm
Uncertainty in laboratory reports – does it affect patients?
A joint workshop organised by BIMDG and MetBioNet
30th June - 1st July 2016
BIMDG Annual Meeting 2016
26-27th February 2016
2016 Annual Multidisciplinary European Phenylketonuria Symposium
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.