Adrenoleukodystrophy: MedlinePlus Medical Encyclopedia

http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm

Adrenoleukodystrophy
Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).

Causes
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

Symptoms
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 Coma Decreased fine motor control Paralysis 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)

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nih. Adrenomyeloneuropathy. Female carriers can be diagnosed 85% of the time using a very-long-chain fatty acid test and a DNA probe study done by specialized laboratories. Alternative Names Adrenoleukodystrophy. These oils are called Lorenzo's oil.nlm. 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. ALD. Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from chorionic villus sampling or amniocentesis.htm Loss of weight. but it does not cure the disease and may not help all patients.gov/medlineplus/ency/article/001182. A specific treatment for X-linked adrenoleukodystrophy is not available. Possible Complications Adrenal crisis Vegetative state (long-term coma) When to Contact a Medical Professional Call your health care provider if: Your child develops symptoms of X-linked adrenoleukodystrophy Your child has X-linked adrenoleukodystrophy and is getting worse Prevention Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. muscle mass (wasting) Muscle weakness Vomiting Exams and Tests Blood levels Chromosome study to look for changes (mutations) in the ABCD1 gene MRI of the head Treatment Adrenal dysfunction is treated with steroids (such as cortisol). Outlook (Prognosis) The childhood form of X-linked adrenoleukodystrophy is a progressive disease. The other forms of this disease are milder. Childhood cerebral adrenoleukodystrophy. This treatment is being tested for X-linked adrenoleukodystrophy. Bone marrow transplant is also being tested as an experimental treatment.Adrenoleukodystrophy: MedlinePlus Medical Encyclopedia http://www. 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. Schilder-Addison Complex 2 of 3 2/15/2014 7:56 PM . after the son of the family who discovered the treatment.

MD.A.A.nlm. Call 911 for all medical emergencies. Nelson Textbook of Pediatrics.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www. Stanton BF.A. MPH.A.M. In: Kliegman RM. Pa: Saunders Elsevier. CA.A.A. is among the first to achieve this important distinction for online health information and services.they do not constitute endorsements of those other sites. Update Date: 12/1/2011 Updated by: John Goldenring.M.hon.D.D. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. Inc. Review provided by VeriMed Healthcare Network. Jenson HB. Learn more about A. Inc. A. Philadelphia. also known as the American Accreditation HealthCare Commission (www. JD. Medical Director. Duplication for commercial use must be authorized in writing by ADAM Health Solutions. Links to other sites are provided for information only -. San Diego. Behrman RE. follows rigorous standards of quality and accountability..2011:chap 592. MHA. Pediatrician with the Sharp Rees-Stealy Medical Group. A.M.htm References Kwon JM.'s editorial policy..nih.ch).gov/medlineplus/ency/article/001182.org).D.M. MD. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. URAC's accreditation program is an independent audit to verify that A.urac.Adrenoleukodystrophy: MedlinePlus Medical Encyclopedia http://www. 19th ed..M. A. Inc. Neurodegenerative disorders of childhood. A.D. A. is accredited by URAC.D.D. eds.M. 3 of 3 2/15/2014 7:56 PM .A.D. Copyright 1997-2014. editorial process and privacy policy. Also reviewed by David Zieve.