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Inborn errors of metabolism
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Inborn errors of metabolism are inherited genetic diseases that arise from a defect in a single gene. That gene makes a protein needed somewhere in a metabolic pathway, that is, in one of the chains of reactions the body uses to turn some substances into others.
The protein that fails can be one of three kinds: an enzyme, which carries out the reaction; a membrane transporter, which moves the substance from one side of the cell membrane to the other; or a cofactor, the helper molecule the enzyme needs in order to work. Whichever one fails, the result is called a metabolic block: a pathway cut off halfway, where what should move on stalls and what should arrive never does. And from there come the two possible harms: the essential product is missing, or the toxic substrate builds up.
Each of these diseases is rare on its own, but together they are not: around 50.9 per 100,000 live births. And they tend to decompensate at specific moments, when metabolism is under strain: fasting, fever, another illness on top of it, or what the person eats.
In brief
Inborn errors of metabolism are inherited disorders caused by a defect in a single gene that codes for a protein in a metabolic pathway.
The defect lies in an enzyme, a membrane transporter or a cofactor, and it creates a metabolic block: the essential product is missing or the toxic substrate builds up.
A pathway cut off: what should move on stalls.
Each one is rare, but together they affect about 50.9 per 100,000 live births, and decompensation is usually triggered by fasting, fever, another illness or diet.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingInborn Errors of Metabolism, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated