You can also start at the Online Mendelian Inheritance in Man main page
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