Metabolism and Genetic Disorders

Inborn errors of metabolism are inherited conditions in which a missing or defective enzyme disrupts a specific biochemical pathway, causing toxic substances to accumulate or essential products to go unmade — with consequences ranging from mild to life-threatening. Clinical biochemistry approaches these disorders by tracing the molecular breakdowns precisely: tools like tandem mass spectrometry now allow clinicians to screen newborns for dozens of conditions simultaneously from a single blood spot, catching diseases like phenylketonuria before symptoms appear. Much of the current work focuses on understanding how disruptions to mitochondrial function and carnitine metabolism contribute to energy failure in cells, and on refining treatments that compensate for pathway defects rather than simply managing their downstream damage. Open questions center on why patients with identical mutations can have very different clinical outcomes, and on how to extend the reach of newborn screening to rarer conditions where early intervention could still make a decisive difference.

Works

196,041

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2,135,257

Keywords

Metabolic DisordersBiochemical GeneticsNewborn ScreeningMitochondrial FunctionCarnitinePhenylketonuria