RALEIGH, N.C. (WAVY) — Babies born in North Carolina will now be screened for two additional disorders.
Newborns will now be screened for two Lysosomal Storage Disorders — Mucopolysaccharidosis Type I (MPS I) and Pompe Disease.
The NCDHHS Newborn Screening Follow-up Program in the Division of Child and Family Wellbeing ensures babies identified with abnormal newborn screening results receive follow-up care and referrals to the appropriate medical specialists.
The Newborn Screening Program previously added Spinal Muscular Atrophy (SMA) in 2021 and X-Linked Adrenoleukodystrophy (X-ALD) in 2022.
North Carolina joins a growing number of states now screening newborns for MPS I and Pompe Disease.
Each year, more than 200 babies in the state are identified with genetic or biochemical disorders through newborn screening.
MPS I affects many parts of the body including the brain, heart, liver, eyes and respiratory system. Like many newborn screening conditions, there are often no signs or symptoms of the condition at birth. Severe MPS I is found in approximately 1 in 100,000 individuals. If untreated, symptoms may include developmental delays, skeletal deformities, impacts to motor skills and respiratory tract infections.
Pompe disease also varies in severity and symptoms. Types of Pompe Disease include infantile-onset and late-onset. Babies affected with Infantile-onset Pompe Disease (IOPD) demonstrate poor muscle development, muscle weakness, impacts to liver development, heart defects and a failure to thrive. IOPD may be fatal if patients do not receive treatment.
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