In This Section      

Metabolic Genetics Clinic

My newborn received an abnormal screen. What do I do?

newborn test

Experts at our clinic for metabolic genetic conditions will work with you to evaluate your newborn child’s abnormal test results. In Maryland, almost all newborns have a screening test for more than 50 conditions that are treatable. These screening tests generally do not provide a definitive diagnosis of a specific condition, but rather, give clinicians clues that further testing may be appropriate. However, not all babies who have a positive screen will actually have the condition. Our clinic will help determine if any immediate actions are needed and perform testing to determine if your baby actually has a metabolic condition.

Metabolic conditions fall under the umbrella of conditions related to “inborn errors of metabolism.” Basically, these genetic conditions disrupt how you break down foods. Many treatments focus on specialized diets and nutritional supplements.

Conditions treated in our clinic include:

  • Phenylketonuria (PKU)
  • Maple syrup urine disease (MSUD)
  • Galactosemia, which is the inability to break down galactose
  • Glycogen storage conditions 
  • We work with you on scheduling diagnostic tests and exams to make a diagnosis and develop a comprehensive treatment plan that is tailored to your newborn.

Our Team

Our team of experts includes metabolic geneticists, nutritionists and genetic counselors, who provide comprehensive care and offer advice and guidance to parents.