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 is likely greater than 1:3000 live births. These conditions may present in the neonatal period as an acute, life-threatening illness, or may manifest later in childhood with symptoms of progressive neurodegeneration, skeletal abnormalities, and/or dysmorphia. The purpose of this introductory unit is to provide an overview of the different clinical categories of metabolic disorders, modern diagnostic methods, and treatment options.
authors: University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors: J Daniel
authors: JD
authors: Sharer
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008967:Molecular Biology / Q000379:methods*; D015997:Neonatal Screening / Q000379:methods / Q000592:standards*