In a major step toward improving early detection and treatment of rare genetic disorders, Texas has officially expanded its newborn screening panel to include four lysosomal storage diseases. As of August 2025, every newborn in the state is now screened for Pompe disease, Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II or Hunter syndrome), and Infantile Krabbe disease. This expansion increases the total number of conditions screened in Texas from birth to 59.
Lysosomal storage disorders are a group of rare but serious conditions caused by enzyme deficiencies that prevent the body from properly breaking down certain substances. When these substances accumulate in cells, they can lead to progressive damage in the brain, muscles, heart, and other organs. For many of these conditions, early diagnosis and intervention are critical, as symptoms often appear in infancy and can become irreversible without prompt treatment.
The Texas Department of State Health Services (DSHS), which oversees the state’s newborn screening program, implemented the expanded panel after securing additional resources through both federal grants and the Newborn Screening Preservation Account, a special fund established by the Texas Legislature in 2019. This funding supported new laboratory equipment, information system upgrades, increased staffing, and expanded clinical coordination to ensure families receive timely follow-up care.
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Every year, Texas screens approximately 800,000 newborn blood specimens. The screening process remains unchanged for families: two blood samples are collected—one between 24 to 48 hours after birth, and a second between days seven and 14. The expansion does not require additional blood draws; the existing heel-stick sample is sufficient to test for the newly added diseases.
The addition of Pompe, MPS I, MPS II, and Krabbe disease reflects both scientific progress and growing advocacy for comprehensive newborn screening. Each of these disorders now has some form of available treatment—either enzyme replacement therapy, bone marrow or stem cell transplants, or investigational therapies—that can significantly alter the course of disease if administered early. In the case of Krabbe disease, for example, a stem cell transplant can improve survival and quality of life if performed before symptoms develop.
The diseases added to the panel are particularly devastating if left undetected. Infantile-onset Pompe disease causes rapid muscle weakness and heart failure, and many affected babies die within their first year without treatment. MPS I and II can result in a range of physical and neurological symptoms, including developmental delays, respiratory issues, and skeletal abnormalities. Infantile Krabbe disease leads to severe neurological decline, with affected children often losing motor function, vision, and eventually the ability to survive past early childhood unless treatment is administered very early.
State officials stress the importance of early detection and coordinated follow-up. When a newborn’s screening result falls outside the expected range, DSHS’s care coordination team promptly contacts the baby’s healthcare provider to arrange diagnostic testing and potential referral to specialists. This early clinical pathway ensures that children with these rare diseases have the best possible chance of receiving timely treatment and supportive care.
This policy change also aligns Texas with national guidelines. The U.S. Department of Health and Human Services maintains the Recommended Uniform Screening Panel (RUSP), a list of conditions that states are encouraged to include in their newborn screening programs. Texas legislation passed in recent years mandates that the state add RUSP-recommended conditions when funding and infrastructure allow. The latest additions underscore Texas’s continued efforts to modernize its public health infrastructure and respond to medical advances that make early treatment of rare diseases more effective and accessible.
For Texas families, the implications are significant. More infants will now be diagnosed before symptoms appear, sparing many from the worst effects of these progressive diseases. Pediatricians and geneticists across the state are welcoming the expansion, noting that a few drops of blood collected at birth can now offer a chance at a healthier, longer life for some of the most vulnerable patients.
The expanded newborn screening initiative demonstrates Texas’s commitment to preventive care and reflects a broader trend in public health toward precision medicine and early intervention, particularly for conditions where time is a critical factor in treatment success.
