Metabolic Screening (Blood and Urine Tests)


Metabolic testing checks how well the body processes proteins, fats, and carbohydrates—important for identifying inborn errors of metabolism that can affect brain function.

• Why it matters: Conditions like phenylketonuria (PKU) or urea cycle disorders can lead to severe developmental delays if untreated.

• In children: Many states already screen newborns for these disorders, but additional tests may be ordered later if symptoms appear.

• Statistic: Roughly 1 in 3,000 babies in the U.S. is born with a detectable metabolic disorder (March of Dimes, 2023).

• What families should know: Early detection through metabolic panels allows for diet-based management and better outcomes.


References:

March of Dimes. (2023). Newborn Screening and Metabolic Conditions.

National Institutes of Health. (2024). Metabolic Disorders in Children.