Utah newborns now screened for X-linked adrenoleukodystrophy

(Salt Lake City, UT) – The Utah Department of Health’s Newborn Screening (NBS) program is excited to announce an additional test for all babies born in the state. This test allows the detection of a debilitating genetic disorder and allows timely and lifesaving care.

On September 20th, 2020 the NBS program added X-linked adrenoleukodystrophy (ALD) to the list of disorders Utah babies are screened for. 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. 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.

“Identifying and treating children with ALD is a life-saving opportunity,”saidJosh Bonkowsky, MD PhD, an expert in ALD and Chief of Pediatric Neurology at University of Utah Health and Intermountain Primary Children’s Hospital.“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.”

Utah is the 19th state to implement screening for ALD. The efforts of families, scientists, doctors, and the Utah legislature was critical for making this life-saving effort possible.

“Disorders, such as ALD, are often not detected and diagnosed only when symptoms develop, which unfortunately is too late to prevent disability or death,” said Kim Hart, Genetic Counselor and UDOH Newborn Screening Program Manager. “Newborn Screening is critical in the early detection and treatment of disorders and ensures all babies can live full and healthy lives. I would like to extend my appreciation to the many partners who worked tirelessly to add ALD to the Newborn Screening panel, especially the volunteers who serve on the Newborn Screening Advisory Committee.”

NBS in Utah consists of two screens- one at 24-48 hours after birth and a second at 2 weeks of age. Blood is obtained by a small heel poke and collected on a screening card. The card is sent to the Utah Department of Health’s Public Health Laboratory where it is tested for now 42 disorders. For more information on the Utah Newborn Screening Program visit https://newbornscreening.health.utah.gov/

Media Contact:
Kim Hart
UDOH Newborn Screening
(801) 656-9315
[email protected]