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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
Oxidative Phosphorylation Diseases
Defects in Nucleotide Metabolism
Disorders in Metal Metabolism and Transport
Defects in Peroxisomes
Diseases Associated with DNA Abnormalities or Defective DNA Repair
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
Oxidative Phosphorylation Diseases
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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The Medical Biochemistry Page
Defective Proteins and Disease
Oxygen Carrying Proteins
Connective Tissue Proteins
Blood Clotting Factors
Defective Glycoprotein Degradation
Congenital Disorders 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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Oxidative Phosphorylation Diseases
Kearns-Sayre SyndromeMitochondrial myopathy, Encephalopathy, Lactic acidosis, and Stroke-like episodes (MELAS)
Myoclonic Epilepsy and Ragged Red Fiber Disease (MERRF)
Alpers Disease
Friedreich Ataxia: a trinucleotide repeat expansion disease
Leigh Syndromeback to the top
Defects in Nucleotide Metabolism
Defects in Purine Nucleotide Metabolism
Defects in Pyrimidine Nucleotide Metabolism
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Disorders in Metal Metabolism and Transport
Menkes Disease
Wilson Disease
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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Last modified: March 10, 2012
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