Defective Proteins and Disease Defects in Hormone Biogenesis or Function Defects in Carbohydrate Metabolism Defects in Cholesterol and Lipoprotein Metabolism Mucopolysaccharide and Glycolipid Disorders: Lysosomal Storage Diseases 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 DNA Abnormalities or Defective DNA Repair

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Defective Proteins and Disease

Oxygen Carrying Proteins

Connective Tissue Proteins

Blood Clotting Factors

Defective Glycoprotein Degradation

Congenital Disorder of Glycosylation

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Defects in Hormone Biogenesis or Function

Congenital Adrenal Hyperplasias, CAH

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Defects in Carbohydrate Metabolism

Glycogen Storage Diseases

Fructose, Galactose and Glycerol

Glucose-6-phosphate Dehydrogenase Deficiency

Erythrocyte Pyruvate Kinase Deficiency

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Defects in Cholesterol and Lipoprotein Metabolism

Hyperlipoproteinemias

Familial Hypercholesterolemia

Niemann-Pick Disease Type C1

Niemann-Pick Disease Type C2

Tangier Disease

Smith-Lemli-Opitz Syndrome

Hypolipoproteinemias

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Mucopolysaccharide and Glycolipid Diseases

The Lysosomal Storage Diseases

Mucopolysaccharidoses

Glycolipid and Glycoprotein Metabolism Defects

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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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Fatty Acid Oxidation Errors

Refsum Disease: Defective α-Oxidation

Disorders in Mitochondrial 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

Defective DNA Repair

Trinucleotide Repeat Disorders

Diseases Associated with Imprinted Genes

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Michael W King, PhD / IU School of Medicine / miking at iupui.edu

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Last modified: October 22, 2009