|Other encyclopedia topics:||A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9|
|Contents of this page:|
Alternative Names Return to topAdrenoleukodystrophy; Adrenomyeloneuropathy; Addison disease; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex
Definition Return to top
X-linked adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).
Causes Return to top
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:
Symptoms Return to top
Childhood cerebral type:
Adrenal gland failure (Addison type):
Exams and Tests Return to top
Treatment Return to top
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.
Outlook (Prognosis) Return to top
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 Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if your child develops symptoms of X-linked adrenoleukodystrophy or if you have a child with X-linked adrenoleukodystrophy who is worsening.
Prevention Return to top
Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. The carrier state in females can be diagnosed in 85% of the cases using a very-long-chain fatty acid test and a DNA probe study by specialized laboratories.
Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from chorionic villus sampling or amniocentesis.Update Date: 11/12/2007 Updated by: Rachel A. Lewis, M.D., F.A.A.P., Columbia University Pediatric Faculty Practice, New York, NY. Review provided by VeriMed Healthcare Network.