Inherited metabolic disorders are a range of diseases caused by defective genes. Though rare, they can have devastating consequences for patients and their families. Research by the pharmaceutical industry has led to many specialised treatments. However, further improvements are still urgently needed.
Disease: Inherited Metabolic Disorders
Last update: May 2005
Intro
FAQ
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What are they?
There are many different types of inherited metabolic disorders. They are caused by gene defects, which affect the way the body makes or breaks down certain proteins and enzymes. They can affect any organ in the body and usually affect more than one.
Nearly every metabolic disorder has several forms, which vary in age of onset, clinical severity and mode of inheritance. Most lead to major organ dysfunction or failure. Their severity ranges from degenerative disorders to acute life-threatening diseases. -
Who gets them?
Most inherited metabolic disorders occur immediately after birth or in early infancy, and tend to progress rapidly. Less severe forms may present later in infancy. Due to their more subtle symptoms, they may go undiagnosed until adulthood.
In Europe, the incidence of inherited metabolic disorders is estimated to be one in every 5,000 live births. The frequency of individual diseases varies depending on the ethnic composition of the population, and most are very rare. -
What can be done about them?
Each metabolic disorder is due to a deficiency of one particular protein or enzyme within the body. For certain diseases it has been possible to identify the deficiency, and a small number of them can be treated by weekly enzyme infusions. There is also a convenient oral treatment available to treat Gaucher's disease, a systemic lipidosis. -
What does the future hold?
Thanks to recent achievements in understanding the causes of metabolic disorders many new therapeutic approaches are now being investigated. These include the development of further enzyme and protein substitutes to enable the treatment of a wider range of these devastating diseases.
In the long term it is hoped to be able to isolate certain genes which have the potential to correct inherited disorders.