Adrenoleukodystrophy (ALD) describes several closely related disorders that disrupt the breakdown of certain fats VSports手机版. These disorders are often passed down (inherited) in families.
"V体育安卓版" Causes
ALD is usually passed down from parent to child as an X-linked genetic trait V体育安卓版. It affects mostly males. Some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.
Some cases of ALD occur when the gene changes on its own V体育ios版. This is called sporadic and is not inherited.
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 VSports最新版本. .
There are three 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 "V体育2025版" Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones
Symptoms
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
- Swallowing difficulties
- Visual impairment or blindness
Adrenomyelopathy symptoms include:
- Difficulty controlling urination
- Possible worsening muscle weakness or leg stiffness
- Problems with thinking speed and visual memory
Adrenal gland failure (Addison type) symptoms include:
- Coma
- Decreased appetite
- Increased skin color
- Loss of weight and muscle mass (wasting)
- Muscle weakness
- Vomiting
Exams and Tests (VSports注册入口)
In most states, children will be screened for ALD as part of newborn screening tests. This is done with a heel stick to draw blood (as part of the routine screenings done on newborns) VSports注册入口. Newborn screening does not diagnose the condition, but it can help lead to early testing and diagnosis.
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 in the ABCD1 gene that may make the person more likely to develop a disease
- "VSports手机版" MRI of the head
- Skin biopsy
V体育ios版 - Treatment
Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.
A specific treatment for X-linked ALD is not available VSports在线直播. A bone marrow transplant may stop worsening of the condition.
Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life.
Support Groups (V体育ios版)
More information and support for people with ALD and their families can be found at:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/adrenoleukodystrophy/
- NIH Genetic and Rare Diseases Information Center -- "V体育官网" rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy
Outlook (Prognosis) (VSports手机版)
The childhood form of X-linked ALD is a progressive disease VSports app下载. 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.
The other forms of this disease are milder.
Possible Complications
These complications can occur:
- Adrenal crisis
- Vegetative state
When to Contact a Medical Professional
Contact your health care provider if:
- Your child develops symptoms of X-linked ALD
- Your child has X-linked ALD and is getting worse
"V体育平台登录" Prevention
Genetic counseling is recommended for couples with a family history of X-linked ALD. Mothers of affected sons have an 85% chance of being a carrier for this condition V体育官网.
Prenatal diagnosis of X-linked ALD 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.
Alternative Names (VSports)
X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex
References
James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Errors in metabolism. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 26.
Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 29.
Wangler MF. Defects in metabolism of lipids./Disorders of very-long-chain fatty acids and other peroxisomal functions. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 106.2.
"V体育官网" Review Date 12/31/2023
Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.