In people with ALD, the body can not properly break down fatty acids. This results in a build up of saturated fatty acids in the brain and the adrenal cortex. This causes damage of the myelin sheath in the brain and the adrenal gland.
Factors that increase your chance for X-linked ALD include:
Having a mother who carries the defective X-linked ALD gene
Age: Childhood to young adult
Sex: Male, although females may be affected
Symptoms can vary within the types of ALD.
X-linked ALD (Childhood Cerebral ALD)
This form is the most severe. It only affects boys. Symptoms usually begin between 2–10 years of age. About 35% of patients can have severe symptoms during the early phase. On average, death results in two years. Some patients may live a couple of decades.
Initial symptoms include:
As the disease progresses, more serious symptoms develop. These include:
Difficulty swallowing and speaking
Difficulty with walking and coordination
Increased pigmentation (“bronzing”) of the skin, due to adrenal hormone deficiency (
Vegetative state or death
X-linked ALD (Adolescent Cerebral ALD)
This type is similar to the childhood type. In this type it begins around 11-21 years of age. The progression is usually slower.
This is the most common form. Symptoms of AMN can present in the 20s. It progresses slowly. They can include:
With this type, symptoms usually do not appear until young adulthood (20s) or middle age (50s). It causes symptoms similar to
. It usually progresses fast. Death or a vegetative state can occur in 3-4 years.
This form is only seen in women. Symptoms may be mild or severe. It usually does not affect the adrenal gland function.
The doctor will ask about symptoms and medical history. A physical exam will be done. The doctor may suspect ALD from its symptoms. To confirm the diagnosis your doctor may order:
Blood tests—to look for increased amount of very long chain fatty acids
There is no way to prevent ALD. If you have ALD or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
Early recognition and treatment may prevent the development of clinical symptoms. This is especially true in young boys who are treated with Lorenzo’s oil. New technologies may soon allow early identification through newborn screening.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a