Metabolism is the means by which the body derives energy and synthesizes the other molecules it needs from the fats, carbohydrates and proteins we eat as food, by enzymatic reactions helped by minerals and vitamins.

This global statement masks the complicated network of enzyme- catalyzed reactions that occurs in cells. Although this page is devoted to diseases caused by errors in metabolic processes, there is actually a significant level of tolerance of errors in the system: often, a mutation in one enzyme does not mean that the individual will suffer from a disease. A number of different enzymes may compete to modify the same molecule, and there may be more than one way to achieve the same end result for a variety of metabolic intermediates. Disease will only occur if a critical enzyme is disabled, or if a control mechanism for a metabolic pathway is affected.

Here, we highlight the diseases of metabolism for which a gene has been identified, cloned and mapped. Many of these are inborn errors of metabolism: inherited traits that are due to a mutation in a metabolic enzyme; others involve mutations in regulatory proteins and in transport mechanisms.

Diseases

• Adrenoleukodystrophy
• Diabetes, type 1
• Gaucher disease
• Glucose galactose malabsorption
• Hereditary hemochromatosis
• Lesch-Nyhan syndrome
• Maple syrup urine disease
• Menkes syndrome
• Niemann-Pick disease
• Obesity
• Pancreatic cancer
• Phenylketonuria
• Prader-Willi syndrome
• Porphyria
• Refsum disease
• Tangier disease
• Tay-Sachs disease
• Wilson's disease
• Zellweger syndrome