Pompe disease and spinal muscular atrophy (SMA), as well as X-linked adrenoleukodystrophy and mucopolysaccharidosis type 1, were added to the newborn screening panel in Alabama, as announced by the Alabama Department of Public Health in a press release. This increases the number of conditions being screened for to 35.
SMA already started being tested for, while Pompe disease and the other conditions will be tested for by the end of the year, according to the announcement. Newborn screening is a public health service that can alert healthcare providers about a condition that is typically not apparent at birth but that can cause disability or death.
The early identification and treatment of babies affected by such conditions can prevent premature death and reduce morbidity. The conditions that will be screened for are selected based on 3 criteria. These are:
- Evidence that supports the benefit of screening
- Ability of states to screen for the disorder
- Availability of effective treatments
Read more about Pompe disease testing
Following the newborn screening, additional evaluation and tests are needed to confirm a diagnosis and identify the right treatment for the disease.
“The Alabama Newborn Screening Program identifies 150-200 babies each year with a metabolic, endocrine, hematological, or other congenital disorder,” the authors said. “These babies usually look and act healthy at birth. Most affected babies have the opportunity to grow up healthy and develop normally through a simple blood screen that saves babies from death and disability”.
Pompe disease or acid maltase deficiency is characterized by the deficiency or absence of the GAA enzyme. This enzyme is responsible for the breakdown of glycogen into glucose. So, in its absence, glycogen accumulates inside cells causing damage.
SMA is caused by a mutation in the SMN1 gene, which encodes the SMN protein that is essential for the health of motor neurons. The disease leads to progressive weakness and loss of movement due to the degeneration of alpha motor neurons in the anterior horn of the spinal cord.
Alabama adds newborn screening tests to help identify conditions not typically apparent at birth. News release. Alabama’s Health; February 15, 2022.