Inborn Errors of Metabolism: From Preconception to Adulthood

Area of Science:

• Genetics
• Metabolic Disorders
• Pediatrics

Background:

• Inborn errors of metabolism (IEM) are rare genetic conditions occurring in approximately 1 in 1,500 births.
• Early detection is critical as IEM can manifest from prenatal stages to adulthood.

Purpose of the Study:

• To outline the diagnostic opportunities and management strategies for inborn errors of metabolism.
• To highlight the importance of carrier screening and newborn screening for IEM detection.

Main Methods:

• Carrier screening during preconception counseling for diverse ethnic groups.
• Newborn screening, including expanded panels for 34 core conditions.
• Clinical observation for IEM presenting with symptoms before or outside of standard screening.

Main Results:

• Preconception and newborn screening offer early detection of IEM.
• Some IEM present later in life or are not detected by standard screening, necessitating specialist consultation.
• Prompt intervention, including dietary modifications and glucose infusions, can be life-saving.

Conclusions:

• Early detection of IEM through various screening methods is vital for timely intervention.
• Management strategies include dietary restrictions and enzyme-replacement therapies for certain IEM.
• Prompt medical consultation is essential for IEM cases presenting outside of routine screening.