Incidence of inborn errors of metabolism


page under construction

The monogenic homepage currently covers 434 inborn errors of metabolism, traceble to 433 underlying genes, 260 of which are enzymes.

In the graph below we are comparing our Hardy-Weiberg estimates/bounds with statistics compiled by Therrell et al, 2014 for the US, between 2001 and 2010. 'Observed -cumulative' refers to the total number of cases in the total population screened across all states. 'Observed -average' is the average incidence over all states, which also enables us to put the error bars on the incidence numbers (the shaded area).

Green: incidence we would expect if we believed that the reported mutations are the only ones leading to the related disase (the lower bound).

Cyan: incidence we would expect if any conceivable SNV, resulting in a substantial modification on protein level, had frequency as big as possible given the gnomAD data (upper bound).

It should be kept in mind that the populations compiled in gnomAD do not necessaily reflect the populations seen in the US screening.