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What is metabolic medicine?
The metabolic medicine department at Great Ormond Street Hospital is one of the largest in the country. It deals with patients suffering from 1,000 serious metabolic disorders, some of them life-threatening. These include amino acid disorders that can lead to severe learning difficulties (eg PKU), disorders that lead to enlargement of the liver and low blood sugar (glycogen storage diseases) and lysosomal storage diseases such as Gaucher's disease.
Metabolic diseases are a group of inherited disorders where there is a genetic fault in the body's chemistry. Usually, enzymes regulate the body's metabolism, but these genetic defects make the enzymes ineffective or non-existent. The effect of these defects on patients is very varied and not always predictable: they can cause no problems at all in some cases, or bring on severe illness and even death.
For some metabolic diseases, there is life-long treatment available, including a special diet, medicines, enzyme replacement therapy or organ transplants. Gene therapy and stem cell research may provide lifelines in the future.
For more information on specific metabolic disorders, visit Climb, Jeans for Genes or Contact a Family.
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