Diagnostic Advances for Inborn Error of Metabolism (IEM) and Screening Interventions in Selected Asian Countries

Olusegun Abayomi Olalere, Mohd Adi Firdaus Tan, Chee-Yuen Gan, Zainuddin Zafarina

Abstract


The establishment of a viable program for new born screening in the Asian region has suffered unimaginable set-back partly due to several factors such as economic, cultural, and geographical differences. This has mostly become exacerbated partly in developing and developed economies due to lack of proper awareness. In many parts of the world, the screening of infants for the congenital disorder is an important part of neonatal activities with an inherent advantage of minimizing the morbidity and mortality rates in newborn. The recent development of state-of-the-art procedure has therefore made it possible for the new born screening of a wide range of strange disorders. This review succinctly presented the overview and importance of new born screening, awareness, spectrometry diagnostic tools and the potential future collaboration among member countries in this region.


Keywords


New born screening; inborn error of metabolism; Urine organic acid profiling; Plasma acylcarnitine profiling; Plasma amino ACD profiling

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References


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