Inborn errors of metabolism
Inborn errors of metabolism are based on genetic mutations which impair the physiological functions of the cells. Depending on the disrupted function, there is an accumulation of the substrates which have not been metabolised, the production of metabolites through alternative metabolic paths of these substrates or the absence of or reduced production of the end products.
This group of conditions includes a number of rare disorders, which together have an incidence of around 1/500 newborn babies. An increasing number of inherited metabolic disorders are detected through newborn screening within the first few days of life in order to start immediate treatment.