An Overview of Biochemical Genetics.
Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases makes them a significant source of morbidity and mortality, particularly among infants and young children, and new conditions continue to be identified. Inherited metabolic disorders may present as an acute, life-threatening illness or with more chronic, progressive symptoms. Population-scale newborn screening allows for early detection and treatment for >40 different metabolic disorders. This introductory unit is intended to provide an overview of the different clinical categories of metabolic disorders, including a description of modern diagnostic methods and treatment options.
['Sharer|J Daniel|JD|']
D001671:Biochemistry D006801:Humans D007231:Infant, Newborn D008659:Metabolic Diseases D008661:Metabolism, Inborn Errors D028361:Mitochondrial Diseases D015997:Neonatal Screening D053719:Tandem Mass Spectrometry
biochemical genetics metabolism newborn screening enzyme enzyme-replacement therapy mass spectrometry