Bone marrow transplant has been extensively used to treat haematological disorders, but more recently it has been used to treat a group of rare and terminal metabolic disorders and other genetic diseases.
Some of these are immediately life-threatening - others are associated with progressive disability. These may result from the deficiency of a single enzyme required for a specific metabolic process. Bone marrow transplant is used to provide a source of the deficient enzyme.
Some examples are given below:
Hurlers / Hunters Syndrome
These are inherited enzyme deficiencies which are usually diagnosed in infancy. They have typical facial appearances with progressive mental retardation, multiple bony problems and later cardiac involvement. Death occurs usually in the sufferer’s first or second decade of life.
Metachromatic Leucodystrophy
Again, an inherited enzyme deficiency, but presenting in several clinical forms depending on the age of onset. Mental function, speech and mobility deteriorate at different rates with death a few years after onset in the late infantile form.
X-linked Lymphoproliferative Syndrome
XLP, also known as Duncan's Syndrome, causes the immune system to respond abnormally to some viral infections. This can result either in an underactive or overactive immune system, causing many problems.
