CAN METABOLIC DISEASES BE TREATED?
Much progress has been made, as mentioned above, to treat metabolic diseases with diet or drugs to restore the chemical balance or through organ transplantation. Bone marrow or liver transplantation in some cases means that the donor marrow or liver can introduce the enzyme missing in the recipient but this form of therapy is available for a very limited number of disorders and is not without risk. Direct infusions of the missing enzyme is another method of treatment that has been used successfully in one or two disorders. For those conditions where no treatment is available, research is aimed at improving the management of symptoms (e.g. anti-convulsant drugs), physiotherapy, speech therapy, specialist approaches to learning and education and the use of individually adapted aids and equipment all help to maintain a good quality of life for the affected child. HOW COULD RESEARCH HELP? Research could help in four ways: • Efficient, early diagnosis, pre-natally where possible, so that th
