ALABAMA (WDNews) – Starting July 29, 2024, the Alabama Department of Public Health (ADPH) has expanded its newborn screening program to include testing for two additional genetic disorders: Pompe disease and Mucopolysaccharidosis Type I (MPS I). This enhancement aims to detect these conditions early, providing a crucial opportunity for treatment that can prevent severe outcomes, including death and disability.
Pompe Disease is a rare disorder caused by enzyme deficiency, leading to severe muscle weakness due to sugar build-up. Without early detection and treatment, this condition can be fatal.
MPS I involves a deficiency in an enzyme, causing the accumulation of toxic materials in cells. The severity and onset age of MPS I can vary, with the most severe form, Hurler syndrome, beginning within the first year of life.
The ADPH has teamed up with the University of Alabama at Birmingham to ensure thorough evaluation and diagnosis of these conditions. The Bureau of Clinical Laboratories at ADPH remains the sole provider of blood analysis for newborn screening in Alabama, identifying around 200 babies each year with various congenital disorders that are not apparent at birth.
