AUSTIN — The Texas Department of State Health Services announced on Tuesday it will add a test for guanidinoacetate methyltransferase (GAMT) deficiency to the state’s newborn screening program. The condition is a rare enzyme deficiency that can lead to severe neurological problems appearing between infancy and age 3.
GAMT deficiency affects fewer than one in 100,000 babies born and disrupts the body’s ability to produce creatine, a compound essential for energy use and storage. The buildup of guanidinoacetate (GUAC), a precursor to creatine, can cause intellectual disability, limited speech development, recurrent seizures, behavioral problems, poor muscle tone, and involuntary movements.
The new test will use blood collected during the routine heel stick performed on newborns between 24 and 48 hours after birth, with a second screening conducted when infants are between seven and 14 days old. Texas now screens for a total of 60 conditions at birth and tests approximately 800,000 babies annually, identifying about 1,000 with often life-threatening disorders.
“Early diagnosis and treatment for this rare condition can lead to improved health and development for the children affected by it,” said Imelda Garcia, MPH, DSHS chief deputy commissioner. She added, “This new test and the many others on the newborn screening panel are critical tools DSHS uses to quickly identify and treat diseases affecting our most vulnerable new Texans.”
GAMT deficiency was added to the U.S. Health and Human Services Recommended Uniform Screening Panel in January 2023. Texas is the 20th state to implement screening for the condition. Under the Texas Health and Safety Code, the state is required to screen for conditions on the federal panel as funding allows. In addition to blood tests, newborns in Texas may also be screened for hearing loss and critical congenital heart disease.