X-Linked Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) occurs when certain fats (very long chain fatty acids, or VLCFAs) cannot be broken down in the body. These fats build up and affect how the body normally functions. This disease largely affects the nervous system and adrenal glands. When an individual has ALD, the buildup of VLCFAs may disrupt the fatty covering (myelin) of the nerve cells in the brain and spinal cord causing the myelin to breakdown, which reduces the ability of the nerves to relay information to the brain. Without myelin, the nervous system cannot function properly causing for example difficulties swallowing or weakness in the legs. However these symptoms vary depending on the type and age of onset and other factors which are not well understood. In addition, the build of VLCFAs damages the outer layer of the adrenal glands (adrenal cortex).

Screening Method: 

C26:0-Lysophisphatidylcholine (C26LPC) levels are measured using Mass Spectrometry


Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression.

Treatment options may include:

  • Stem cell transplant. This may be an option to slow or halt the progression of adrenoleukodystrophy in children if ALD is diagnosed and treated early. Stem cells may be taken from bone marrow through bone marrow transplant. 
  • Adrenal insufficiency treatment. Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy).
  • Medications. Your doctor may prescribe medications to help relieve symptoms, including stiffness and seizures.
  • Physical therapy. Physical therapy may help relieve muscle spasms and reduce muscle rigidity. Your doctor may recommend wheelchairs and other mobility devices if needed.
Adrenoleukodystrophy (ALD) affects 1 in 17,000 individuals (males and females) worldwide