Adrenoleukodystrophy: MedlinePlus Medical Encyclopedia

P Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families.

T Causes
P Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males, although some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.
P The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes. This disrupts normal activity in these parts of the body.
P There are 3 major categories of disease:
- Childhood cerebral form -- appears in mid-childhood (at ages 4 to 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

T Symptoms
P Childhood cerebral type symptoms include:
- Changes in muscle tone, especially muscle spasms and uncontrolled movements
- Crossed eyes
- Handwriting that gets worse
- Difficulty at school
- Difficulty understanding what people are saying
- Hearing loss
- Hyperactivity
- Worsening nervous system damage, including coma, decreased fine motor control, and paralysis
- Seizures
- Swallowing difficulties
- Visual impairment or blindness
P Adrenomyelopathy symptoms include:
- Difficulty controlling urination
- Possible worsening muscle weakness or leg stiffness
- Problems with thinking speed and visual memory
P Adrenal gland failure (Addison type) symptoms include:
- Coma
- Decreased appetite
- Increased skin color
- Loss of weight and muscle mass (wasting)
- Muscle weakness
- Vomiting

T Exams and Tests
P Tests for this condition include:
- Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland
- Chromosome study to look for changes (mutations) in the ABCD1 gene
- MRI of the head

T Treatment
P Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.
P A specific treatment for X-linked adrenoleukodystrophy is not available. A bone marrow transplant can cure a people of the condition.

T Outlook (Prognosis)
P 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.
P The other forms of this disease are milder.

T Possible Complications
P These complications can occur:
- Adrenal crisis
- Vegetative state

T When to Contact a Medical Professional
P Call your health care provider if:
- Your child develops symptoms of X-linked adrenoleukodystrophy
- Your child has X-linked adrenoleukodystrophy and is getting worse

T Prevention
P Genetic counseling is recommended for couples with a family history of X-linked adrenoleukodystrophy. Mothers of affected sons have an 85% chance of being a carrier for this condition.
P Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.

T Alternative Names
P X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex

T Images
- Neonatal adrenoleukodystrophy

T References
P Raymond GV. Disorders of very long chain fatty acids. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 86.
P Steinberg SJ, Moser AB, Raymond GV. X-Linked adrenoleukodystrophy. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. University of Washington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1315/. Updated April 9, 2015. Accessed October 24, 2015.

T Review Date 10/27/2015
P Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

