What Are Inborn Errors of Metabolism?
Inborn errors of metabolization are genetic, congenital disorders that interfere with the way the body metabolizes or uses the substances it receives, usually via food. There are many of these conditions. All together, about .04% of the population suffers from these “errors,” and a defective gene that cannot break down or properly use something the body receives usually characterizes them. This means the body either fails to get a needed substance or a substance builds up in the body to harmful or even fatal levels. There are two main groups of inborn errors of metabolism. With diseases like PKU, the issue is that the body accumulates too much of a chemical because a genetic defect has robbed it of its ability to break that chemical down. The other group consists of those disorders where the body can’t properly use or metabolize something it does receive, so that the body’s methods for getting energy or other needed resources become impaired.
