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Johns Hopkins Children’s Center

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Pediatric Metabolism

Newborn screening

Our team of experts at the Metabolic Genetics Clinic diagnoses and provides comprehensive care for children with inherited metabolic disorders, also known as inborn errors of metabolism. Children referred to our clinic for evaluation for a potential underlying inherited metabolic disorder present with a wide spectrum of issues, including failure to thrive, vomiting, hypoglycemia, altered mental status and recurrent unexplained illness.

In addition, we evaluate newborns with abnormal newborn metabolic screen results. Almost all babies born in Maryland are screened for more than 50 inherited metabolic diseases that can be treated if detected early. Specialists at our Metabolic Genetics Clinic evaluate newborns with abnormal screens right away, determine if the newborn screen is false positive or the baby is truly affected, and initiate treatment in a timely manner.

Related

Maryland Department of Health Newborn Screening Parents Page

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