Article
Disease or non-disease - about the identification of metabolic conditions that require no treatment.
Molecular genetics and metabolism - 1 Mar 2026
Sass Jörn Oliver, Häberle Johannes
Abstract excerpt
Many inborn errors of metabolism (IEM) fulfil clinically relevant criteria and therefore are considered metabolic diseases. Typically, these conditions are due to impaired biosynthesis or breakdown of substances within specific pathways. However, there is also a growing number of metabolic conditions that are understood to represent merely biochemical phenotypes but are not linked to typical clinical findings and...
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