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.

Intro
Biochemical Genetics
Metabolic pathways
Biochemical disorders General Principles
Biochemical testing
Inheritance
Phenylalanine Hydroxylase Deficiency (PAH) formerly PKU
NEWBORN SCREENING: GET THE FACTS
Amino acid disorders General Principles • Disorders of AA metabolism can result in: - Acidosis
PA and MMA
Maple syrup urine disease (MSUD)
Glutaric Aciduria Type 1
Prevalence
Other urea cycle disorders
Galactosemia and related disorders
Galactosemia-related disorders
Glycogen storage disorders (GSD)
Glucose Transporter Deficiency Type 1
Fatty acid oxidation disorders General principles
MCADD (medium chain acyl-CoA dehydrogenase deficiency)
VLCADD
Carnitine deficiencies
Carnitine cycle
Genetic testing
Exome testing
Questions?