Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan

Conclusion Neonatal screening for IMDs and their treatment in the current situation is an unaffordable practical option in Pakistan. Screening parents, siblings and subsequent pregnancies, however, is likely to provide a cost effective and acceptable alternative in reducing the burden and enabling early, effective detection of affected progeny before the stage when neurometabolic changes become irreversible in developing countries like Pakistan with very limited resources.
Source: Egyptian Journal of Medical Human Genetics - Category: Genetics & Stem Cells Source Type: research