What is an Inherited Metabolic Disease?

Inherited metabolic diseases are a group of rare, genetic inherited diseases caused by a problem with a specific metabolic pathway in the body.

A metabolic pathway is a series of chemical reactions that takes place to make essential material for the body, to remove poisons from the body or produce energy. Chemical reactions are constantly taking place to maintain the body’s natural equilibrium using lots of different enzymes- these are specific types of chemicals that speed up or slow down how fast these chemical reactions take place.

Inherited Metabolic Diseases are caused by a fault in a gene which leads to a lack, or a complete absence of an enzyme involved in one of these important chemical reactions. A lack of the enzyme means that it is unable to carry out its job and this can lead to a build-up of toxic chemicals in the body, and can also cause levels of important chemicals to be dangerously low. Due to the body’s chemistry being so complicated, if one chemical in the body does not work properly, a number of other problems may occur because of this. This serious imbalance can cause progressive damage to a person’s organs.

Metabolic diseases affect each individual differently. This can be dependent on which gene is defective and how much of the enzyme is lacking. Some metabolic diseases mean that a child is born with severe problems and is unlikely to reach school age. Others mean that the person will require lifelong dietary and/or medication management to avoid serious illness. Without the correct management many metabolic diseases can be fatal.

It is estimated that in the UK alone, at least 600 babies are born each year with an inherited metabolic disease.

Early diagnosis and prompt management of a metabolic disease can, in many cases, improve symptoms and prognosis. As well as supporting children, families, and adults worldwide who are affected by a metabolic disease; Climb raises vital awareness of these rare conditions throughout the medical profession and provides links with specialists involved in their care.