Adrenoleukodystrophy in Children: Diagnosis and Treatment

How Do Doctors Test for Adrenoleukodystrophy?

Doctors use genetic and hormone testing and brain scans to test for adrenoleukodystrophy. Genetic testing is usually done through a blood test.

How Do Doctors Treat Adrenoleukodystrophy?

Treatment depends on a person’s symptoms and the type of adrenoleukodystrophy that they have. It is important to diagnose the disorder early so treatment will work better. Your child’s doctor will help figure out the best treatment.

There are two aspects to treatment:

• Steroid replacement therapy. This is necessary when the adrenal glands are damaged and can no longer make the adrenal hormones cortisol and aldosterone.
• Lorenzo’s Oil. Along with reduced fat intake, Lorenzo’s oil has been used to reduce the risk of progression of the severe cerebral form of the disease
• Stem cell transplant. Stem cells are cells from bone marrow (soft core of bones) that can help make more protein from the ABCD1 gene.

What is the Outlook for a Child with Adrenoleukodystrophy?

The outcome depends on whether the individual has the very severe cerebral form of adrenoleukodystrophy, or one of the less severe forms. We understand this is a difficult time for you. Your child’s care team is here with you every step of the way. We can answer any questions and address your concerns at any time.