Related Terms

  • Adrenal gland, ALD, brain defects, leukodystrophies, Lorenzo’s oil, muscle defects, myelin sheath, very long chain fatty acids, VLCFA, X chromosome, X-linked recessive.


  • Adrenoleukodystrophy (ALD) is a rare and fatal genetic disorder that affects the nerves and adrenal glands.
  • Patients with ALD experience a progressive loss of brain function, and may exhibit a variety of symptoms, including behavioral changes, poor memory, visual loss, learning disabilities, seizures, difficulty swallowing, deafness, difficulty walking, poor coordination, and fatigue. Individuals affected with ALD usually die within one to 10 years after symptoms appear.
  • Patients with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA), which are fatty acids with at least 20 carbons. VLCFA accumulate in tissues and organs because patients with ALD are unable to produce a protein normally involved in transporting VLCFAs into the peroxisome, an compartment in the cell where they are normally broken down.
  • As a result, the condition leads to the breakdown of the myelin sheath, which is a fatty membrane that surrounds and protects the brain and spinal cord. In patients with ALD, the adrenal glands also often become dysfunctional. When functioning normally, the adrenal glands secrete cortisol, which regulates proper glucose metabolism, blood pressure, and insulin release for blood sugar regulation.
  • Currently, there is no known way to prevent ALD.

Risk Factors

  • Adrenoleukodystrophy (ALD) is an inherited genetic condition, and a mutation on the X chromosome has been linked to the development of ALD. Therefore, families in which at least one parent has this X chromosome mutation are at greater risk for having a child with ALD.
  • Males are at higher risk for developing X-linked ALD than females. This is because females have two copies of the X chromosome, but males only have one copy. Females must have the mutation on both X chromosomes, while males, who have an X and a Y chromosome, only need to have the mutation on the one X chromosome. This is a form of inheritance called recessive X-linked inheritance.
  • Unlike X-linked ALD, the mutated gene that causes neonatal ALD is not located on the X-chromosome. This means that both male and female babies are affected equally. Neonatal ALD is inherited in an autosomal recessive pattern. In an autosomal recessive genetic disorder, both copies of a certain gene need to be defective for the condition to manifest itself. People who only have one mutated gene are called “carriers.” If only one parent is a carrier, none of the children will have ALD, but each child has a 50% risk of being a carrier; if both parents are carriers, then there is a 50% chance that a child will be a carrier, and a 25% chance that a child will have ALD.


  • Adrenoleukodystrophy (ALD) is caused by a mutation in an gene called ABCD1, which normally transports very long chain fatty acids (VLCFA) into a compartment in the cell called the peroxisome where they are normally broken down. Due to this mutation, patients with ALD accumulate high levels of VLCFA in the blood and in body tissues, such as the brain.
  • ALD has two subtypes: X-linked ALD and neonatal ALD.
  • X-lined ALD: X-linked ALD occurs when the patient inherits the abnormal gene from one or both parents. Since males only have one X chromosome, they will have the disease if they inherit one copy of the mutated X chromosome. Since females have two X chromosomes, they must inherit two copies of the mutated chromosome in order to have the disease. If females have just one copy of the mutated gene, they are called carriers. Carriers of ALD may experience mild symptoms of ALD. This is because the normal copy of the gene can partially compensate for the abnormal one in females.
  • Neonatal ALD: Neonatal ALD is also an inherited condition. Unlike X-linked ALD, the mutated gene that causes neonatal ALD is not located on the X-chromosome. This means that neonatal ALD affects both males and females equally. Mutations in the gene PEX5 have been shown to cause neonatal ALD. PEX5 is a receptor that functions in protein import into the peroxisome. Both copies of PEX5 need to be mutated for an individual to develop ALD.

Signs and Symptoms

  • In patients with adrenoleukodystrophy (ALD), there is a buildup of VLCFAs (because they do not get broken down), which leads to the breakdown of the myelin sheath (a fatty membrane that surrounds and protects nerves in the brain and spinal cord) and to a dysfunction in the adrenal glands. Breakdown of the myelin sheath is thought to be due to solubilization of the sheath by VLCFAs, and adrenal gland dysfunction may be caused because normal VLCFA metabolism is needed by the adrenal gland to produce steroids. Patients with ALD have reduced levels of cortisol, which is a hormone released by the adrenal gland. Cortisol regulates blood pressure, and ensures proper glucose metabolism and maintenance by regulating insulin release.
  • Childhood ALD: Symptoms of X-linked ALD may develop in childhood or adulthood. The childhood form usually develops between the ages of four and 10. The most common symptoms are behavioral changes (such as abnormal withdrawal or aggression), poor memory, and poor performance at school. Other symptoms may include vision loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, difficulty walking, poor coordination, fatigue, intermittent vomiting, darkening of the skin tone, and progressive dementia.
  • Adult ALD: Symptoms of X-linked ALD are usually milder if they develop during adulthood. Adult-onset symptoms, which usually develop between the ages of 21 and 35, may include progressive stiffness, weakness or paralysis of the lower limbs, and loss of coordination. Although adult-onset ALD generally progresses more slowly than the childhood form, it may also cause brain function to progressively deteriorate.
  • Carriers of X-linked ALD may experience mild symptoms, including weakness of the legs, loss of coordination, excessive muscle tone, urinary problems, and numbness or tingling sensations in the hands or feet (called peripheral neuropathy). This is a result of minor VLCFA buildup in these patients.
  • Neonatal ALD: Symptoms of neonatal ALD develop during infancy. Common symptoms include mental retardation, facial abnormalities, seizures, weak muscle tone, enlarged liver, and adrenal dysfunction. Symptoms of adrenal dysfunction typically include muscle weakness and fatigue, weight loss and decreased appetite, darkening of the skin, low blood pressure, fainting, cravings for salt, low blood sugar levels, irritability, depression, diarrhea, nausea, and vomiting. This form of ALD usually progresses rapidly, causes neurodegeneration, and results in death in infancy or young childhood.


  • VLCFA testing: A blood test or skin test can be used to check for increased levels of very long chain fatty acids (VLCFA).
  • MRI: A magnetic resonance imaging (MRI) scan may be performed to take pictures of the brain. MRI is a noninvasive imaging technique that uses magnetic waves and radio waves to take an image of tissues within the body. If brain damage has occurred in a patient with ALD, the damaged tissue will appear as white regions in the MRI image. These damaged regions are called white matter.
  • Genetic testing: A genetic test may be performed to diagnosis neonatal adrenoleukodystrophy (ALD). During the procedure, a sample of the patient’s blood is taken and sent to a laboratory. If a mutation is found in specific genes that have been implicated in ALD, the patient is diagnosed with the condition.


  • Adrenal dysfunction: Patients with adrenoleukodystrophy (ALD) often exhibit defects in the adrenal glands, which normally produce the hormone cortisol. Cortisol regulates proper glucose metabolism, blood pressure, and insulin release for blood sugar regulation. The adrenal glands in patients with ALD often produce insufficient amounts of cortisol, which may lead to muscle weakness and fatigue, weight loss and decreased appetite, darkening of the skin, low blood pressure, fainting, cravings for salt, low blood sugar levels, irritability, depression, diarrhea, nausea, and vomiting.
  • Neurological dysfunction: If loss of brain function becomes severe, patients with ALD may enter into a vegetative state. A vegetative state is a condition of unconsciousness in which an individual is alive, but can’t move or respond to his or her surroundings.
  • Due to the progressive loss of neurological function, patients with ALD generally only survive one to 10 years after the onset of symptoms.


  • There is currently no known cure for adrenoleukodystrophy (ALD). Instead, treatment focuses on reducing symptoms.
  • Steroids: Patients typically receive steroids to replace the hormones that are normally produced by the adrenal glands. Patients typically receive corticosteroids, such as hydrocortisone (Cortef® or Hydrocortone®), prednisone, cortisone, and dexamethasone (Decadron®, Baldex®, or Dexone®), to replace low levels of cortisol. These medications are taken once or twice a day to control hormone levels. Corticosteroids may alter blood glucose levels and should be used cautiously in diabetics. Other side effects of corticosteroids include muscle weakness, osteoporosis, high blood pressure, depression, and weight gain.
  • Diet: Patients should also consume a diet that is low in long chain fatty acids (avoiding foods such as butter, cream, ice cream, and fatty meats). Patients should work with their healthcare providers, nutritionists, and/or registered dietitians to plan an appropriate diet.
  • Lorenzo’s oil: Recent evidence suggests that a substance made of oleic acid and erucic acid, called Lorenzo’s oil, may help reduce or delay symptoms of X-linked ALD. Lorenzo’s oil was thought to work by reducing the levels of VLCFAs in the blood. However, Lorenzo’s oil is not as effective as initially believed. Researchers are performing studies to determine if modifications to Lorenzo’s oil can help make this treatment more effective.
  • Bone marrow transplant: Researchers are currently studying bone marrow transplantation as a possible treatment for patients with X-linked ALD.

Integrative Therapies

  • Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of adrenoleukodystrophy (ALD).


  • There are currently no known ways to prevent adrenoleukodystrophy (ALD). However, a number of treatment options exist that allow patients to manage some of the symptoms Also, genetic counseling is available to test for ALD and is recommended for those with a family history of the disease.

Author Information

  • This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration ().


Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to Selected references are listed below.

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