The Alabama Department of Public Health (ADPH) has expanded its newborn screening program to include two additional treatable genetic disorders, aiming to improve early detection and treatment for affected infants.

The ADPH Bureau of Clinical Laboratories began testing for Pompe disease and Mucopolysaccharidosis Type I (MPS I) on July 29. These conditions, while rare, can lead to severe health issues or death if not diagnosed and treated early. Through a simple blood screen, newborn screening can alert healthcare providers to the potential for a condition that is not typically apparent at birth. Early detection allows for timely interventions, increasing the likelihood that affected babies can grow up healthy and develop normally.

Pompe disease, one of the newly added disorders, is caused by a deficiency of an enzyme that leads to the build-up of stored sugar, resulting in severe muscle weakness. Without early detection and treatment, the disease can be fatal.

MPS I, the other new addition, is also caused by an enzyme deficiency, leading to the accumulation of toxic materials in cells. The severity and age of onset vary, with the most severe form, Hurler syndrome, manifesting within the first year of life.

The ADPH is partnering with the University of Alabama at Birmingham to ensure proper follow-up for these conditions. The collaboration involves evaluating and confirming diagnoses, as well as providing information to healthcare providers and families for appropriate treatment.

The ADPH Bureau of Clinical Laboratories is the sole provider of blood analysis for newborn screening in Alabama, identifying approximately 200 babies each year with metabolic, endocrine, hematological or other congenital disorders. These babies usually appear healthy at birth, making early screening crucial.

For additional information, please visit www.hrsa.gov/advisory-committees/heritable-disorders/rusp and www.alabamapublichealth.gov/newbornscreening/index.html.