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NEWBORN SCREENING FOR INBORN ERRORS OF METABOLISM

Definition:

Newborn screening for inborn errors of metabolism is the process whereby healthy newborn babies are screened to determine the risk of having a disease that will, if not detected lead to irreversible organ damage and even death.

The process has an impact not only on the health and well being of babies but also on their families and the community they live in.

Introduction

Newborn screening is the process of testing newborn babies for genetical, endocrinological, and metabolical diseases.

The disorders that are screened for may not otherwise be detected before developmental disability or death occurs. Newborns with these disorders typically appear normal at birth. Appropriate and timeously prescribed treatment can allow most affected newborns to develop normally.

Newborn screening is recognised internationally as an essential, preventive health program for early identification of disorders in newborns that can effect their long term health.

Early detection, diagnosis, and treatment of certain genetic, endocrine or metabolic disorders can lead to significant reductions of death, disease, and associated disabilities.

 

 
 
 
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