Metabolism and Genetic Disorders

Inborn errors of metabolism are inherited conditions in which a faulty enzyme or transporter disrupts a biochemical pathway, causing toxic compounds to accumulate or essential products to fall short — with consequences ranging from subtle developmental delays to life-threatening organ failure. Clinical biochemistry approaches these disorders by tracing the chemical fingerprints they leave in blood, urine, and tissue, and techniques like tandem mass spectrometry have made it possible to screen newborns for dozens of conditions simultaneously, catching diseases such as phenylketonuria before symptoms appear. Much of current research centers on mitochondrial function and molecules like carnitine, which shuttles fatty acids into mitochondria for energy production, since defects in these systems underlie a broad and still-expanding set of diagnoses. Open questions include how to interpret variants of uncertain significance uncovered by expanded screening, and how to move beyond dietary management toward therapies that restore enzymatic activity or correct the underlying genetic lesion.

Works

196,550

Total citations

2,142,963

Keywords

Metabolic DisordersBiochemical GeneticsNewborn ScreeningMitochondrial FunctionCarnitinePhenylketonuria