Incidence of inborn errors of metabolism
Estimates from variants in general population
page under construction
Estimates summary (PDF)
Inborn errors of metabolism (IEM) constitute a large class of genetic diseases, specific
in that many of them are amenable to (nutritional) treatment, especially if detected early.
As the first-line screening moves from metabolite to genetic,
it opens new possibilities for the number of diseases that can be screened for, which in
turn may bring them to the attention of the medical and nutrition industry -
the existence of effective treatment currently being one of the prerequisites for the IEM to be included in the screening panel.
Collecting data about the incidence of the IEM
on the national level
is a difficult process, and not systematically pursued.
However, the information about human genetic variation is becoming available
(e.g. the gnomAD database
on the scale that enables us to put a bracket on the expected incidence of all recognized IEMs with monogenic
origin. We are collecting that information on this page. We use data integration -
modeling of the related protein structure, evolutionary conservation, known disease causing variants,
and the genetic variability in the protein coding regions of the genome, stratified across ethnic sub-populations -
to put an upper limit on the expected incidence of IEMs.
Download the document containing the latest estimates
browse the list of genes
take a look at the overview of the collection
or search by disease name, name shorthand, or keyword from name description:
Last update: Oct 20, 2017