Overview
This course covers key biochemical processes such as phenylalanine/tyrosine pathway, glycolysis, gluconeogenesis, glycogen, galactose metabolism, branched chain amino acids metabolism, urea cycle, and fatty acid oxidation. It also includes clinical approaches and investigations of essential inborn errors of metabolism. The course outlines approaches to disorders of complex molecules like lysosomal storage diseases and peroxisomal disorders. Students will learn about chromatography, tyrosine pathway, organic acid analysis, urea cycle, and treatment methods. The course is designed for individuals interested in understanding inborn errors of metabolism and related clinical approaches.
Syllabus
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
Taught by
The Royal College of Pathologists