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Intro
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Classroom Contents
The Basics of Inborn Errors of Metabolism - A Clinical and Diagnostic Perspective
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- 1 Intro
- 2 Biochemical Genetics
- 3 Metabolic pathways
- 4 Biochemical disorders General Principles
- 5 Biochemical testing
- 6 Inheritance
- 7 Phenylalanine Hydroxylase Deficiency (PAH) formerly PKU
- 8 NEWBORN SCREENING: GET THE FACTS
- 9 Amino acid disorders General Principles • Disorders of AA metabolism can result in: - Acidosis
- 10 PA and MMA
- 11 Maple syrup urine disease (MSUD)
- 12 Glutaric Aciduria Type 1
- 13 Prevalence
- 14 Other urea cycle disorders
- 15 Galactosemia and related disorders
- 16 Galactosemia-related disorders
- 17 Glycogen storage disorders (GSD)
- 18 Glucose Transporter Deficiency Type 1
- 19 Fatty acid oxidation disorders General principles
- 20 MCADD (medium chain acyl-CoA dehydrogenase deficiency)
- 21 VLCADD
- 22 Carnitine deficiencies
- 23 Carnitine cycle
- 24 Genetic testing
- 25 Exome testing
- 26 Questions?
