The Alabama Department of Public Health (ADPH) is excited to announce that on July 29, 2024, the Bureau of Clinical Laboratories began testing for two treatable genetic disorders. Newborn screening can alert healthcare providers to the potential for a condition that is typically not apparent at birth. With a simple blood screen and treatment, most affected babies have the opportunity to avoid death and disability and grow up healthy and develop normally.
The new disorders added to Alabama’s newborn screening panel are described as follows:
Pompe diseaseis a rare genetic disorder caused by a deficiency of an enzyme resulting in the build-up of stored sugar, leading to severe muscle weakness. The disease can be fatal without early detection and treatment.
Muccopolysaccharidosis Type I (MPS I) is a rare genetic disorder caused by a deficiency in an enzyme resulting in the buildup of toxic materials in cells. There is wide severity and age of onset with the most severe form (Hurler syndrome) beginning within the first year of life.
Close coordination is needed for newborn screening follow-up. For these two conditions, the ADPH is partnering with the University of Alabama at Birmingham to evaluate and confirm diagnosis, and ADPH provides information to healthcare providers and families for appropriate treatment.
The ADPH Bureau of Clinical Laboratories is the sole provider of blood analysis of newborn screening in Alabama. ADPH identifies approximately 200 babies each year with a metabolic, endocrine, hematological, or other congenital disorder. These babies usually look and act healthy at birth.
For additional information, please visit https://www.hrsa.gov/advisory-committees/heritabledisorders/ruspand https://www.alabamapublichealth.gov/newbornscreening/index.html
