Project By: Lily Jones

What is Adrenoleukodystrophy?

Adrenoleukodystrophy also know as: ABCD1_HUMAN, ALD, ALDP, AMN, ATP-binding cassette, sub family D (ALD), member 1, and Schiller's disease, is a disorder caused by a mutation in the ABCD1 gene. The ABCD1 gene is a gene that provides the instructions to produce the adrenoleukodystrophy protein.

“'Adreno,' refers to the adrenal glands, while, 'leuko,' is the Greek word for white. 'Dystrophy,' means, 'impaired growth. Adrenoleukodystrophy (ALD) affects a person's adrenal glands and the growth of myelin” (1 Weiss).

What chromosome is affected by this disorder?

The ABCD1 gene is a gene that provides the instructions to produce the adrenoleukodystrophy protein in the brain; this gene is located on the Xq28 chromosome.
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Are there prenatal tests for Adrenoleukodystrophy?

Yes, look for abnormal development in the child, a history in the family of medical conditions

What are symptoms of Adrenoleukodystrophy?

Crossed eyes, coma, paralysis, deterioration of fine motor control, muscle spasms, hyperactivity, trouble swallowing, impaired vision, trouble with language comprehension, and loss of hearing.

What population is affected by Adrenoleukodystrophy?

This disease is more common in men but also occurs in females because it is located on the X chromosome. When a female has the disease they are usually only carriers or the disease is very mild.

“Around one in every one-hundred thousand people is affected by ALD” (2 Weiss).

Can anyone be a candidate for Adrenoleukodystrophy?

Yes, as long as a parent also carries or expresses this disease.

How is Adrenoleukodystophy inherited?

Adrenoleukodystophy is a sex-linked disease.

What kind of medical assistance will the affected child need?

The child will need to take various oils and medications while growing up. The child will also have to alter their diet plan and if serious enough a permanent solution might need to take place by the donation of embryonic stem cells to increase the production of myelin, or the protective coat surrounding the neurons in the brain.

Will further assistance be needed, as the child grows older?

No, assistance that is needed as a child for the patient will continue to be needed.

What is the long-term outlook for the child?

Depending on the condition of ADL the child could live for up to 10 years but will spend most of it's life in coma.

Are there any treatments or cures for Adrenoleukodystrophy?

Medications to reduce risk of seizures, taking Lorenzo’s oil and adapting diet plant to lower VLCFA levels, and physical therapy to help gain control of muscles.

Can Adrenoleukodystrophy be prevented?

No, Adrenoleukodystrophy can not be stopped because it is an inherited condition.

If an individual has Adrenoleukodystrophy can they have children in the future? If so will their children be affected?

Yes, affected people can have children, but their children will have a high risk of Adrenoleukodystrophy.

What is the current current status of research on adrenoleukodystrophy?

Treatment research is still occurring because stem cell translation, the only “permanent” fix is very dangerous. The most promising developing treatment is gene therapy because the disease is so extreme.

Is there a cure/new treatment coming soon?

Hopefully, if more research is done on gene therapy then a permanent cure for Adrenoleukodystrophy would be available.


Delgado, Amanda, and Elizabeth Boskey. "Adrenoleukodystrophy."Healthline. Health Line, n.d. Web. 04 May 2016.

Kemp, Stephan. "Facts on ALD." Xlinked Adrenoleukodystrophy Database Facts on ALD Comments. ADL Database, 7 Apr. 2016. Web. 04 May 2016.

Weiss, Thomas C. "Adrenoleukodystrophy - Facts and Information."Disabled-World: Towards Tomorrow. Disabled World, 28 Mar. 2010. Web. 4 May 2016.

Krieger, Kennedy. "Diagnosing ALD." The Stop ALD Foundation. STOP ALD FOUNDATION, n.d. Web. 04 May 2016.

Haldeman-Englert, Chad. "Adrenoleukodystrophy - Penn State Hershey Medical Center." Penn State Hershey Medical Center. Penn State, 27 Oct. 2015. Web. 04 May 2016.