 Defective Proteins and Disease

 Defects in Carbohydrate Metabolism

 Defects in Cholesterol and Lipoprotein
Metabolism
 Mucopolysaccharide and Related Disorders
 Defects in Amino and Organic Acid Metabolism
 Porphyrias and Bilirubinemias
 Errors in Fatty Acid Metabolism
 Defects in Nucleotide Metabolism
 Disorders in Metal Metabolism and Transport
 Defects in Peroxisomes
 Diseases Associated with Defective DNA Repair

Defective Proteins and Disease

 Oxygen Carrying Proteins
 Connective Tissue Proteins
 Clotting Factors

Defects in Carbohydrate Metabolism

 Glycogen Storage Diseases
 Fructose, Galactose and Glycerol

Defects in Cholesterol and Lipoprotein

Metabolism
 Hyperlipoproteinemias
 Hypolipoproteinemias
 Mucopolysaccharide and Related
Diseases
 Mucopolysaccharidoses
 Sphingolipodoses
 Oligosaccharidoses
 Mucolipidoses

Errors in Amino Acid and Organic Acid

Metabolism</CENTER< font>
 Specific Amino Acids
 Urea Cycle Defects
 Defects in Amino Acid Transport

Defects in Non-Amino Acid Nitrogen Metabolism

 The Porphyrias
 Disorders in Bilirubin Metabolism

Errors in Mitochondrial Fatty Acid

Oxidation
 Disorders in b-Oxidation
 Disorders in Carnitine-Mediated Transport and
Carnitine Uptake
 Defects in Nucleotide Metabolism
 Defects in Purine Nucleotide Metabolism
 Defects in Pyrimidine Nucleotide Metabolism

Disorders in Metal Metabolism and

Transport
 Disorders of Copper Transport
 Hemochromatosis

Disorders of Peroxisomes
 Disorders in Peroxisome Biogenesis
 Adrenoleukodystrophies

Diseases Associated with Defective DNA Repair

Mechanisms
 Defective DNA Repair