The Basics of Inborn Errors of Metabolism - A Clinical and Diagnostic Perspective

Explore the fundamentals of inborn errors of metabolism from clinical and diagnostic perspectives in this 52-minute webinar presented by Ambry Genetics. Delve into biochemical genetics, metabolic pathways, and general principles of biochemical disorders. Learn about various testing methods, inheritance patterns, and specific conditions such as Phenylalanine Hydroxylase Deficiency and Maple Syrup Urine Disease. Gain insights into newborn screening, amino acid disorders, urea cycle disorders, galactosemia, glycogen storage disorders, and fatty acid oxidation disorders. Discover the role of genetic testing, including exome sequencing, in diagnosing these conditions. Enhance your understanding of rare metabolic disorders and their impact on patient care.