The Utah Department of Health’s Newborn Screening (NBS) program has added a test for all babies born in the state that detects a debilitating genetic disorder.
On Sept. 20, 2020, the NBS program added X-linked adrenoleukodystrophy (ALD) to the list of disorders Utah babies are screened to detect health problems.
Josh Bonkowsky, MD PhD, an expert in ALD and Chief of Pediatric Neurology at the University of Utah Health and Intermountain Primary Children’s Hospital, said in a prepared statement:
Identifying and treating children with ALD is a life-saving opportunity. Our goal is to prevent the terrible outcomes before it is too late. This screen gives children and families with this disease the potential for a long and healthy life.
ALD affects approximately 1 in 17,000 individuals every year. Males are more severely affected and are at risk for a severe form of the disease that can lead to death, a press release stated. (Women are also affected, but with slower disease progression.)
ALD is a multi-system disorder and affects most prominently the central and peripheral nervous systems. Symptoms usually begin in seemingly healthy boys during the early school years, with rapid progression of symptoms and death within three years of diagnosis. Early identification through screening, and treatment with a stem cell transplant, can stop disease progression.
Children diagnosed with ALD will be cared for by a team of neurologists, endocrinologists and other specialists at Primary Children’s Hospital.
For more information on the Utah Newborn Screening Program, click here.