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,

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Last update: Oct 20, 2017