RALEIGH, N.C. (WNCN) — Every year, the NC Department of Health and Human Services says at least 200 babies in the state are born with genetic or biochemical disorders. Those disorders are identified through newborn screening.

Now, the department hopes to catch more disorders earlier. The state announced it was adding Lysosomal Storage Disorders — Mucopolysaccharidosis Type I (MPS I) and Pompe Disease to their Newborn Screening Program.

“Newborn screening is critical for early detection and treatment of many genetic and biochemical disorders in the first few days and weeks after birth,” said Dr. Scott Shone, Director of the State Laboratory of Public Health at NCDHHS. “Before leaving the hospital, a few drops of the baby’s blood are collected on a special filter paper card and sent to the State Laboratory to help identify babies who may be at increased risk for certain health problems as early as possible.”

NCDHHS says studies have shown the importance of early identification and treatment which can be lifesaving for the most severe cases. They hope expanding treatments could provide better outcomes and an improved quality of life for newborns.

“I applaud the NC Newborn Screening Program for the addition of MPS I and Pompe disease to the state’s newborn screening panel ensuring a better quality of life for these babies and their families,” said Sharon King, member of the North Carolina Advisory Council on Rare Diseases.

According to the NCDHHS, MPS I affects parts of the body like the brain, heart, liver, eyes, and respiratory system. It often presents with no signs or symptoms at birth. Severe cases are detected in about 1 in 100,000 individuals. If untreated, the disorder could cause developmental delays, skeletal deformities, impacts to motor skills, and respiratory tract infections.

The NCDHHS says babies affected with Infantile-onset Pompe Disease (IOPD) have poor muscle development, muscle weakness, impacts to liver development, heart defects, and a failure to thrive. It can be fatal if patients do not receive treatment.

In 2021, the state added Spinal Muscular Atrophy (SMA) with X-Linked Adrenoleukodystrophy (X-ALD) added in 2022.

The NCDHHS Newborn Screening Follow-up Program in the Division of Child and Family Wellbeing and in partnership with the UNC Division of Genetics & Metabolism ensures babies identified with abnormal newborn screening results receive follow-up care and referrals to the appropriate medical specialists.