The Texas Department of State Health Services added a new enzyme deficiency test to its newborn screening panel. According to a June 2 news release from DSHS, the addition of the test means all Texas newborns will now be screened for 60 rare, genetic conditions.
The new test screens for guanidinoacetate methyltransferase deficiency, commonly known as GAMT deficiency. GAMT is an enzyme that helps the human body produce creatine. Without it, the body cannot properly use or store energy, which can trigger severe neurological problems between infancy and age three. Symptoms include intellectual disabilities, limited speech development, recurrent seizures, behavioral challenges, and poor muscle tone.
Public health experts estimate the condition is extremely rare, affecting fewer than one in 100,000 babies. Nationwide screening is projected to identify roughly seven infants each year with the deficiency.
The federal government added GAMT to its Recommended Uniform Screening Panel in January 2023, and Texas law requires the state to adopt these recommendations as funding allows. Texas is the 20th state to implement the test.
DSHS Chief Deputy Commissioner Imelda Garcia said early diagnosis and treatment can improve health and development outcomes for affected children. The screening does not require extra procedures and will utilize the standard blood sample collected from a newborn’s routine heel stick shortly after birth. State laboratory staff and medical follow-up teams have completed all necessary training to begin processing the tests statewide.