Inherited Metabolic Disorders (IMDs) is an umbrella term for the most important and vast group of rare and mostly recessively inherited genetic disorders due to an enzymatic block in a given biochemical pathway. Although individually rare, collectively IMDs are frequent with an estimated incidence ranging from 1/784 to 1/2500.
The term IMDs encompasses a diverse and heterogeneous collection of more than 700 genetic diseases, for this reason, considering the complexity of the IMDs field as a whole, the IMDs have been categorised in 7 different subgroups according to the specific disrupted metabolism.