ADPH starts screening for two more genetic disorders in newborns

MONTGOMERY, Ala. (WTVY) – The Alabama Department of Public Health began testing for two treatable genetic disorders on Monday.

The new disorders added to the state’s newborn screening list are Pompe disease and Mucopolysaccharidosis Type 1 (MPS 1).

According to the ADPH, Pompe disease is a rare genetic disorder caused by a deficiency of an enzyme that leads to the build-up of stored sugar causing severe muscle weakness. Without early detection and treatment, it can be fatal.

MPS 1 is caused by a deficiency of an enzyme that leads to the buildup of toxic materials in cells. There is a wide range of severity and age of development for MPS 1 with the most severe form, HUrler syndrome, beginning in the first year of life.

With a blood screen and treatment, most babies with these disorders have the opportunity to grow up healthy.

For these two conditions, the ADPH is partnering with the University of Alabama at Birmingham to confirm the diagnosis and will provide information to healthcare providers for treatment.

The ADPH Bureau of Clinical Laboratories is the only provider of blood analysis of newborn screening in Alabama and identifies nearly 200 babies a year with a metabolic, endocrine, hematological, or other congenital disorder.

For more information about newborn screening visit the ADPH website.

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