💡 Metabolic Disorders

Basics

1. Approach to IEM
2. Neonatal Screening for Metabolic Diseases

Protein Metabolism Disorders

Overview

1. Amino Acid Metabolism Defects
2. Urea Cycle Disorders

Specific Disorders

1. Phenylketonuria
2. Tyrosinemia
3. Homocystenuria
4. Maple Syrup Urine Disease
5. Alkaptouria
6. Isovaleric Acidemia
7. OTC Deficiency
8. Methylmalonic Acidemia (MMA)

Carbohydrate Metabolism Disorders

Overview

1. Glycogen Storage Disorders
2. Glycolysis associated disorders
3. Kerb's Cycle Associated Disorders

Specific Disorders

1. Von Gierke's Disease
2. Pompe's Disease
3. Galactosemia

Fat Metabolism Disorder

Overview

1. Fatty Acid Oxidation Defect (FOAD)

Specific Disorders

1. Zellweger Syndrome

Others

1. MPS - overview
2. MPS-1 Hurler Disease
3. MPS-2 Hunter Disease
4. Lysosomal Storage Disorders - Overview
5. Sphingolipidosis and Mucolipidosis - Overview
6. Gaucher's Disease
7. Niemann Pick Disease
8. Tay-Sach's Disease
9. Biotinidase Deficiency
10. X-Linked Adrenoleukodystrophy (X-ALD)