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The Medical Biochemistry Page

© 1996–2017, LLC | info @

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

Cushing Syndrome

Addison Disease

Graves disease

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Defects in Carbohydrate Metabolism

GLUT1 Deficiency Sydrome

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


Familial Hypercholesterolemia

Niemann-Pick Disease Type C1

Niemann-Pick Disease Type C2

Tangier Disease

Smith-Lemli-Opitz Syndrome


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Mucopolysaccharide and Glycolipid Diseases

The Lysosomal Storage Diseases


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 Syndrome
Mitochondrial 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 Syndrome

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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

Menkes Disease

Wilson Disease


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Peroxisome Disorders

Defects in Peroxisome Biogenesis


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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 | © 1996–2017, LLC | info @

Last modified: May 26, 2017