Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats.
Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait.It therefore affects mostly males,although some women who are carriers can have milder forms of the disease.It affects approximately 1 in 20,000 people from all races.
The condition results in the buildup of very-long-chain fatty acids in the nervous system,adrenal gland,and testes, which disrupts normal activity.
There are three major categories of disease:
• Childhood cerebral form — appears in mid-childhood (at ages 4 – 8)
• Adrenomyelopathy — occurs in men in their 20s or later in life
• Impaired adrenal gland function (called Addison disease or Addison-like phenotype) — adrenal gland does not produce enough steroid hormones
Childhood cerebral type:
• Changes in muscle tone,especially muscle spasms and spasticity
• Crossed eyes (strabismus)
• Decreased understanding of verbal communication (aphasia)
• Deterioration of handwriting
• Difficulty at school
• Difficulty understanding spoken material
• Hearing loss
• Worsening nervous system deterioration
o Decreased fine motor control
• Swallowing difficulties
• Visual impairment or blindness
• Difficulty controlling urination
• Possible worsening muscle weakness or leg stiffness
• Problems with thinking speed and visual memory
Adrenal gland failure (Addison type):
• Decreased appetite
• Increased skin color (pigmentation)
• Loss of weight, muscle mass(wasting)
• Muscle weakness
• Blood levels
• Chromosome study to look for changes (mutations) in the ABCD1 gene
• MRI of the head
Adrenal dysfunction is treated with steroids (such as cortisol).
A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids.
These oils are called Lorenzo’s oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.
Bone marrow transplant is also being tested as an experimental treatment.
• Adrenal crisis
• Vegetative state (long-term coma)
The childhood form of X-linked adrenoleukodystrophy is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop.The child can live in this condition for as long as 10 years until death occurs.