Inborn Errors of Metabolism: Increasing Importance in Pediatric Care
April 2009
in “
Pediatrics in review
”
TLDR Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
The article discussed the increasing importance of biochemical genetics and inherited metabolic disorders (inborn errors of metabolism) in pediatric care, as traditional pediatric illnesses have declined due to improved treatments. Newborn screening has significantly contributed to the awareness of these disorders. Previously, most states tested for up to eight disorders, but advancements in technology have expanded this to over 40 disorders in many states. A national panel recommended expanding the testing to 29 disorders, reflecting the growing recognition and capability to diagnose and manage these conditions.