Metabolism and Genetic Disorders

Inborn errors of metabolism are inherited conditions in which a faulty enzyme or transport protein disrupts a specific biochemical pathway, causing toxic substances to accumulate or essential products to go missing — sometimes with severe consequences for the brain, heart, or muscle. Clinical biochemistry approaches these disorders by tracing the molecular defects behind conditions like phenylketonuria, mitochondrial disease, and carnitine deficiency, and by developing tools such as tandem mass spectrometry that can detect dozens of disorders from a few drops of newborn blood before symptoms appear. Early identification through newborn screening has transformed outcomes for many patients, yet challenges remain in interpreting variants of uncertain significance, optimizing treatment for conditions with highly variable presentations, and understanding why disruptions in pathways like tetrahydrobiopterin biosynthesis produce such wide-ranging neurological effects. Ongoing work aims to refine diagnostic thresholds, expand screening panels responsibly, and develop targeted therapies that go beyond dietary restriction to correct underlying metabolic dysfunction.

Works

197,125

Total citations

2,150,865

Keywords

Metabolic DisordersBiochemical GeneticsNewborn ScreeningMitochondrial FunctionCarnitinePhenylketonuria