
02/08/2024
The NIH has estimated that 1 in 2,500 people are born with an identifiable inborn error in metabolism, however, this number is likely an underestimate for various reasons including, but not limited to:
▪️Testing is often limited to just 2% of our genes (exome testing)
▪️Most testing is done in newborn infants
▪️Symptoms range in severity and can present at any age, so they go unreported
▪️Comprehensive testing has been slow, expensive, and unreliable
As we shift to using more whole genome testing, we can identify more defects.
These defects may not be causing outright disease, but are still impacting metabolism, which is the foundation for health.
Addressing these defects could be the missing piece in your health puzzle!