Adrenoleukodystrophy: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Adrenoleukodystrophy?
Adrenoleukodystrophy is usually cared for by a neurologist (a brain and nerve doctor), often with a pediatric neurologist for children and an endocrinologist (a hormone doctor). It affects the nerves and the adrenal glands. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is adrenoleukodystrophy?
Adrenoleukodystrophy (ALD) is a rare genetic disorder. It harms the nerves and the adrenal glands. Nerve fibers are covered by myelin, a fatty coating that protects them. In ALD the myelin breaks down, so nerve signals do not travel well. The adrenal glands sit on top of the kidneys and make hormones. ALD can damage them too.
ALD is caused by a change in the ABCD1 gene. This gene tells the body how to make a protein called ALDP. ALDP carries very long-chain fatty acids (VLCFAs, very long fat molecules) into peroxisomes (tiny sacs in cells that break down fats). Without ALDP, VLCFAs build up. They can harm myelin and the adrenal glands.
Symptoms
ALD takes different forms. The childhood cerebral form can move very fast. It usually starts in boys between ages 4 and 10, after normal early development. Signs include:
- Learning and behavior problems, and lost skills.
- Trouble reading, writing, or understanding speech.
- Vision or hearing loss.
- Poor coordination, stiff muscles, or seizures.
- Trouble swallowing.
An adult form often starts between the late 20s and middle age. It causes stiffness and weakness in the legs, bladder problems, and numbness or pain. People with ALD can also have adrenal insufficiency. This means the adrenal glands make too few hormones. Signs include tiredness, weight loss, weakness, low blood pressure, vomiting, and darker skin.
Causes and who gets it
A change in the ABCD1 gene causes ALD. The gene change runs in families in an X-linked pattern. This means the gene sits on the X chromosome, one of the two sex chromosomes. Boys have one X chromosome, so one changed gene is enough to cause ALD. Girls have two X chromosomes, so the change usually causes milder problems that start later.
A father with ALD passes the changed gene to all of his daughters but none of his sons. ALD affects about 1 in 15,000 people worldwide. It shows up in all populations.
How doctors diagnose it
A blood test measures very long-chain fatty acids. High levels point to ALD. Genetic testing can find the change in the ABCD1 gene. Doctors also test how well the adrenal glands work.
An MRI (a scan that uses magnets) shows whether myelin in the brain is damaged. Newborn screening can find ALD early. Each state decides which conditions it screens for. Finding ALD early matters, because treatment works best before symptoms start.
Treatment
Adrenal insufficiency is treated with hormone replacement. This means taking steroids (man-made versions of the hormones the body is missing).
For boys with early brain involvement, a stem cell transplant is the standard treatment. It can stop nerve problems from getting worse. Healthy blood-forming cells from a donor are given to the patient. Doctors call this hematopoietic stem cell transplantation (HSCT). It works best when done early, before symptoms start. It does not fix adrenal problems. It is a major procedure with serious risks.
In 2022, the FDA approved a gene therapy called Skysona for boys ages 4 to 17 with early, active cerebral ALD who do not have a matched donor for a stem cell transplant. It is meant to slow the nerve problems. It can raise the risk of blood cancer. Doctors are still studying its long-term safety. Repeated brain MRI scans help doctors track the disease either way.
When to see a doctor
See a doctor right away if a child starts losing skills or has new behavior or learning problems. Trouble walking or vision changes also need prompt care. Call 911 if someone has a seizure. Call 911 if someone with ALD has severe weakness, vomiting, or very low blood pressure. These can mean the adrenal glands are failing.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can watch development, order blood tests, and coordinate care with neurology and hormone specialists. They can also handle long-term follow-up.
Common questions
Is adrenoleukodystrophy inherited?
Yes. ALD is X-linked and caused by a change in the ABCD1 gene. Boys are affected most. A father with ALD passes the changed gene to all of his daughters but none of his sons.
How serious is the childhood cerebral form?
It can move very fast. It usually starts in boys between ages 4 and 10. Without treatment, it can be life-threatening within a few years after symptoms start.
Can ALD be treated?
Yes. Hormone pills treat the adrenal problems. A stem cell transplant can stop nerve problems when done early. The gene therapy approved in 2022 can slow nerve problems for some boys.
How is ALD found?
Blood tests measure very long-chain fatty acids, and genetic testing confirms the ABCD1 change. An MRI shows whether the brain is affected. Newborn screening can find ALD early.
Sources
- MedlinePlus Genetics - X-linked adrenoleukodystrophy
- NORD - X-Linked Adrenoleukodystrophy
- FDA - SKYSONA
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
