The Alabama Department of Public Health Bureau of Clinical Laboratories has begun testing newborns for two treatable genetic disorders. 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:
Pompe disease, which is 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 UAB 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.