Adrenoleukodystrophy, or ALD, is a rare, inherited condition in which the body cannot break down certain fats called very long chain fatty acids. These fats build up and can affect the adrenal glands, the brain, and the spinal cord. Newborn screening was added because early identification allows close monitoring so that treatment can start at the first sign of trouble.
What causes ALD
ALD is caused by variants in the ABCD1 gene and is inherited in an X-linked pattern, so it most often and most severely affects boys. Girls and women who carry a variant can develop milder symptoms later in life. Because ALD can progress in different ways, families work closely with specialists after diagnosis.
How newborn screening detects it
Newborn screening measures a marker called C26:0 lysophosphatidylcholine in the blood spot from the heel prick. An abnormal result prompts confirmatory fatty-acid testing and ABCD1 gene analysis, followed by a plan for ongoing monitoring.
How ALD is managed
There is no single cure, but early detection is powerful. Regular monitoring can catch the cerebral form early, when a hematopoietic stem cell transplant can halt its progression. Adrenal insufficiency, another feature of ALD, is treated with hormone replacement. Ongoing follow-up with neurology and endocrinology is central to care.
How genetic screening fits in
State newborn screening does an excellent job of catching ALD. Genetic screening looks at the same picture from the DNA level and, in a single test, can also assess the genes tied to more than 1,000 other clinically actionable childhood conditions, many of which are not on any state panel. Fore Genomics offers an at-home cheek-swab screen, sequenced in CLIA-certified and CAP-accredited labs, with results supported by board-certified genetic counselors. See what we screen for or start screening.
Frequently asked questions
Is ALD on newborn screening panels?
Yes. ALD is on the federal Recommended Uniform Screening Panel and is screened for by a growing number of states.
Why is monitoring so important?
Catching the cerebral form early is what makes stem cell transplant an option, so consistent follow-up after a positive screen is essential.
Is it inherited?
Yes. ALD is X-linked, caused by variants in the ABCD1 gene, and most severely affects boys.
Related guides
- Newborn Screening Guide (all conditions and states)
- SCID (Severe Combined Immunodeficiency)
- Biotinidase Deficiency
Medically reviewed by Fore's Clinical Team. This article is for general educational purposes and is not medical advice. Sources: HRSA Newborn Screening; National Organization for Rare Disorders (NORD).