Inborn Errors of Metabolism - Dr. Tumelo Satekge

Explore key biochemical processes and clinical approaches to inborn errors of metabolism in this comprehensive lecture by Dr Tumelo Satekge. Delve into essential pathways including phenylalanine/tyrosine, glycolysis, gluconeogenesis, glycogen metabolism, galactose metabolism, branched chain amino acids, urea cycle, and fatty acid oxidation with the carnitine shuttle. Learn about routine biochemical and specialized investigations for aminoacidopathies, phenylketonuria, galactosaemia, glycogen storage diseases, organic acidemias, fatty acid oxidation disorders, and urea cycle disorders. Gain insights into approaches for diagnosing and managing disorders of complex molecules, such as lysosomal storage diseases and peroxisomal disorders. Understand the mechanisms, complications, and treatment options for various metabolic diseases, including thoracic anemia, maple syrup disease, and propionic acidemia. Discover chromatography techniques and organic acid analysis methods used in diagnosing these conditions.

Introduction
Inborn metabolic diseases
Mechanisms
Metabolism
Glucose metabolism
Glycogen metabolism
Glycogen storage disease
galactosemia
complications
Chromatography
Tyrosine Pathway
Treatment
Thoracic anemia
Type II
Branched chain amino acids
Propionic acidemia
Organic acid analysis
Coe trapping
Maple syrup disease
Metabolic pathy
Urea cycle
Recap