Defective Proteins and Disease
Defects in Carbohydrate Metabolism
Defects in Cholesterol and Lipoprotein Metabolism
Mucopolysaccharide and Glycolipid 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
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The Medical Biochemistry Page
Defective Proteins and Disease
Oxygen Carrying Proteins
Connective Tissue Proteins
Blood Clotting Factors
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Defects in Carbohydrate Metabolism
Glycogen Storage Diseases
Fructose, Galactose and Glycerol
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Defects in Cholesterol and Lipoprotein Metabolism
Hyperlipoproteinemias
Hypolipoproteinemias
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Muccopolysaccharide and Glycolipid Diseases
Mucopolysaccharidoses
Sphingolipidoses
Oligosaccharidoses
Mucolipidoses
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Defective Amino and Organic Acid Metabolism
Specific Amino Acids
Urea Cycle Defects
Amino Acid Transport Defects
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The Porphyrias and Bilirubinemias
The Porphyrias
Disorders in Bilirubin Metabolism
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Mitochondrial Fatty Acid Oxidation Errors
Disorders in β-Oxidation
Disorders in Carnitine-Mediated Transport and Carnitine Uptake
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Defects in Nucleotide Metabolism
Defects in Purine Nucleotide Metabolism
Defects in Pyrimidine Nucleotide Metabolism
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Disorders in Metal Metabolism and Transport
Disorders of Copper Transport
Hemochromatosis
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Peroxisome Disorders
Defects in Peroxisome Biogenesis
Adrenoleukodystrophies
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Diseases Associated with Defective DNA Repair Mechanisms
Defective DNA Repair
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Michael W King, PhD / IU School of Medicine / miking at iupui.edu
Last modified:
March 29, 2008