In-born errors of metabolism

ABSTRACT

The causes of the majority of in-born errors of metabolism have yet to be fully elucidated, further knowledge of the mechanisms of these lethal metabolic disorders is necessary in order to employ adequate therapy. A very interesting line of therapy was observed in a recent paper by Schneck et al who diagnosed Tay Sach's disease after ammniocentesis, and subsequently terminated the pregnancy. Prevention to my mind could in the future be the primary aim of therapy in certain of these lethal disorders rather than one subjecting himself to the pros and cons and the psychological trauma of euthanasia. It would also be interesting to see how far prenatal diagnosis could go to aid the prevention of lethal haemoglobinopathies. The concept of prevention within this concept without doubt poses a serious ethical problem. (Summary)