Inherited metabolic diseases are a group of many different genetic conditions usually caused by a biological enzyme deficiency. These conditions are often life-limiting, always multi-systemic and are usually progressive. The service provides care and treatment for patients and families affected by these conditions. The service is provided in different locations within the hospital depending upon the condition. The clinic for general inherited disease is held in clinic 5 whilst services for patients with lysosomal storage disorders are held in the lysosomal disorders unit.
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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.