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Inborn Errors of Metabolism - Dr. Tumelo Satekge

The Royal College of Pathologists via YouTube

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Overview

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This course explains key biochemical pathways involved in inborn errors of metabolism and clinical approaches to investigating and treating aminoacidopathies, organic acidemias, fatty acid oxidation disorders, urea cycle disorders, and selected lysosomal and peroxisomal disorders.

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

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