Adrenoleukodystrophy (patient information)
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| Adrenoleukodystrophy (patient information) | |
| ICD-10 | E71.3 |
|---|---|
| ICD-9 | 330.0, 277.86 |
| OMIM | 300100 202370 |
| DiseasesDB | 292 |
| MeSH | D000326 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor(s)-In-Chief: Alexandra M. Palmer
Overview
Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).
What are the symptoms of Adrenoleukodystrophy?
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
- Hyperactivity
- Worsening nervous system deterioration
- Seizures
- Swallowing difficulties
- Visual impairment or blindness
Adrenomyelopathy:
- Difficulty controlling urination
- Possible worsening muscle weakness or leg stiffness
- Problems with thinking speed and visual memory
Adrenal gland failure (Addison type):
- Coma
- Decreased appetite
- Increased skin color (pigmentation)
- Loss of weight, muscle mass (wasting)
- Muscle weakness
- Vomiting
What causes Adrenoleukodystrophy?
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
Who is at highest risk?
Adrenoleukodystrophy is a genetic disorder, so anyone with a family history of the disorder is at risk. Since the disease is passed down from parents to their children as an X-linked genetic trait, males are mostly affected.
How to know you have Adrenoleukodystrophy?
When to seek urgent medical care?
Call your health care provider if:
- Your child develops symptoms of X-linked adrenoleukodystrophy
- Your child has X-linked adrenoleukodystrophy and is getting worse
Treatment options
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.
Where to find medical care for Adrenoleukodystrophy?
Directions to Hospitals Treating Adrenoleukodystrophy
What to expect (Outlook/Prognosis)?
The childhood form of X-linked adrenoleukodystrophy is a progressive disease that leads to a long-term coma (vegetative state) about 2 years after neurological symptoms develop. The child can live in this condition for as long as 10 years until death occurs.
The other forms of this disease are milder.
Possible complications
- Adrenal crisis
- Vegetative state (long-term coma)