Newborn Screening: X-linked Adrenoleukodystrophy (X-ALD)

Wisconsin health care providers can nominate a condition to add to the Wisconsin newborn screening panel. The panel is part of the Wisconsin Newborn Screening program.

The purpose of this page is to show providers the nomination process for X-ALD.

What is X-linked Adrenoleukodystrophy (X-ALD)

X-ALD is a rare X-linked genetic condition caused by a change in a gene so that a protein which helps the body break down certain types of fats is not made correctly. It affects both males and females, but females tend to develop symptoms as adults and the symptoms are often milder than those seen in males. Males with X-ALD are often normal in infancy, but they may go on to develop problems with their adrenal glands which produce hormones, brain and spinal cord. Without treatment, these boys may become seriously ill or develop irreversible neurologic damage during childhood.

Treatments for X-ALD include providing hormones that are deficient. Another treatment, hematopoietic stem cell transplantation (HSCT) may halt progressive brain abnormalities. There is no cure for X-ALD, but early diagnosis following newborn screening means that children with X-ALD can often avoid serious hormone insufficiency, degenerative brain disease, and death by having regular monitoring to detect hormonal and brain abnormalities at early stages when treatment is most likely to be effective.

X-ALD may present with more mild symptoms and later in life in some men and women. Nearly all adult males and some women with X-ALD not treated early will develop stiffness in their legs and difficulty walking.

Nomination process for X-ALD disease

The following timeline outlines the newborn screening panel nomination process:

• September 9, 2021—The Wisconsin Newborn Screening program received a nomination (PDF) to add X-ALD to the newborn screening panel.
• September 17, 2021—The Wisconsin Newborn Screening Metabolic Subcommittee had a meeting where it considered the nomination. It recommended adding X-ALD disease to the Wisconsin newborn screening panel. It forwarded this suggestion to the Wisconsin Newborn Screening Umbrella Committee.
• Dec. 3, 2021—The Wisconsin Newborn Screening Umbrella Committee adopted the recommendation to add X-ALD to the Newborn Screening Panel of conditions. They forwarded it to the Secretary’s Advisory Committee on Newborn Screening.
• March 4, 2022—The Secretary’s Advisory Committee on Newborn Screening considered the nomination and forwarded a recommendation report (PDF) to the Wisconsin Department of Health Services (DHS) Secretary in support of adding X-ALD to the Newborn Screening Panel of condition.
• May 12, 2022—The Secretary approved the recommendation (PDF) to add X-ALD to the Newborn Screening Panel.
• X-ALD is currently going through the rulemaking process. The Wisconsin State Legislature, DHS' Office of Legal Counsel, the Office of Policy Initiatives and Budget, and Newborn Screening program staff are involved in the rulemaking process for adding conditions to Wisconsin’s Newborn Screening panel and increasing the Newborn Screening fee. The process can take up to 18 months or longer. Once the rulemaking process is complete and a condition is added, it will be announced and the communication will be shared with hospitals and others.

Learn more about Administrative rulemaking at DHS and the Wisconsin legislature.

Questions? Contact dhswicongenitaldisorders@dhs.wisconsin.gov.