Inherited metabolic diseases are a group of many different genetic conditions usually caused by a biological enzyme deficiency.
Inherited metabolic diseases (also referred to as Inborn Errors of Metabolism) are a group of rare genetic conditions that cause a range of disruption to the normal chemical reactions taking place in the body to convert or use energy, for example: breaking down or converting chemicals into other substances inside cells, breaking down the food (carbohydrates, proteins, and fats) to release energy, converting excess nitrogen into waste products excreted in urine. These reactions need enzymes to work, therefore any genetic change that impairs the action of these enzymes will cause physical symptoms. There are a large number of inborn errors of metabolism with widely varying symptoms and treatment possibilities.
Whilst this website is temporarily under development please visit the patient support group websites for specific information about inherited metabolic disorders or the NHS information website