DSHS adds lysosomal diseases testing to state’s newborn screening panel

Texas Department of State Health Services added four lysosomal disease tests to its newborn screening panel in August, pushing the number of conditions every baby born in Texas is screened for to 59. Each baby is screened twice, meaning around 800,000 specimens are tested annually in the Texas Newborn Screening Laboratory to help find infants who may have one or more of the medical conditions.

Hearing loss and critical congenital heart disease are additional point of service tests, typically conducted by the birthing facility.

“Time is of the essence for many of these disorders, and immediate action and treatment may help prevent serious health complications,” said DSHS Commissioner Jennifer A. Shuford, MD, MPH. “Newborn screening plays a vital role in protecting these most vulnerable Texans by identifying early any potential medical conditions.”

Lysosomal diseases are rare genetic conditions that cause a buildup of toxic materials in the body’s cells and organs. People with lysosomal diseases lack certain enzymes or a substance that helps the enzyme work. Without functioning enzymes, the body can’t break down fats and sugars and other substances. If those build up in the body, they can be harmful. When caught early, treatment can help manage the symptoms and lessen damage to organs and tissues.

Lysosomal diseases now being tested include:

• Pompe Disease – The infantile type of Pompe Disease can cause muscle problems, including cardiac issues, that begin in early infancy and can cause death within the first year. Incidence in Texas is ~1 to 2.5 per 100,000 births, or 4-10 annually in Texas.
• Mucopolysaccharidosis Type I (MPS I) - Severe MPS I can cause problems with the heart, airways, eyes and ears, muscles, bones, joints, and brain. These problems can worsen quickly and cause early death. Incidence rate is ~1 per 100,000 births, or about 4 annually.
• Mucopolysaccharidosis Type II (MPS II) - There are two main types of MPS II: severe and attenuated. Both types of MPS II can cause problems with the liver, spleen, heart, airways, lungs, bones, joints, abdomen, head and neck, ears, mouth, nose, skin, throat, brain, movement, and behavior. People with the severe type of MPS II have more brain and behavior problems. Problems from MPS II can cause early death. Incidence rate is ~1 per 100,000 births, or about 4 annually.
• Infantile Krabbe Disease (KD) - Without screening, infantile KD typically presents in the first year of life with irritability, feeding difficulties, seizures, and progressive spasticity. Infantile KD can progress quickly, with progressive neurologic decline leading to death. Incidence rate is ~1 per 100,000 births, or about 4 annually.

DSHS was able to utilize CDC grant funding and the Newborn Screening Preservation Account, created by the legislature in 2019, to advance this initiative. To add newborn screening for lysosomal disease, the newborn screening program:

• Modified space and systems within the existing laboratory.
• Installed instruments.
• Developed and validated tests.
• Developed algorithms to ensure presumptive cases receive appropriate diagnostic testing and treatment.
• Made updates to the Laboratory Information Management System, an IT system that uses screening algorithms to identify abnormal screens for follow up.
• Hired and trained additional staff for both laboratory testing and clinical care coordination.

A heel stick blood sample is required for newborn screening tests. Samples are collected from newborns 24 to 48 hours after birth, and a second sample is collected when the baby is 7 to 14 days of age. If the result for one of the laboratory tests is outside of the expected range, the NBS program's Clinical Care Coordination group immediately begins follow-up with a healthcare provider.

This year, the Texas Legislature gave DSHS permission to use federal funds to build new laboratory space. When operational, that space will allow for additional newborn screening testing for Duchenne Muscular Dystrophy.

Every year through screening, Texas identifies approximately 1,000 newborns diagnosed with life-threatening disorders. DSHS began its newborn screening program 60 years ago with a test for phenylketonuria, which was one of the most commons causes of intellectual disability at that time but could be treated if caught early enough.

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(News Media Contact: pressofficer@dshs.texas.gov)