title: An Overview of Biochemical Genetics.
abstract: 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.
authors.affiliation: University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: J Daniel
authors.initials: JD
authors.lastname: Sharer
mesh_terms: D001671:Biochemistry / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods*; D053719:Tandem Mass Spectrometry / Q000379:methods
keywords: biochemical genetics; enzyme; enzyme-replacement therapy; mass spectrometry; metabolism; newborn screening