Adrenoleukodystrophy (uh-dree-noh-loo-koh-dis-truh-fee) is a type of hereditary (genetic) condition that causes damage to the membrane surrounding nerve cells in your brain (myelin sheath). In adrenoleukodystrophy (ALD), your body can't break down very long-chain fatty acids (VLCFA), causing high levels of saturated VLCFAs to build up in your brain, nervous system and adrenal gland.

X-linked adrenoleukodystrophy (ALD)

X-linked adrenoleukodystrophy (ALD) is a type of genetic (hereditary) condition (leukodystrophy) that causes damage to the membrane surrounding nerve cells in your brain (myelin sheath). X-linked ALD is caused by a genetic defect on the X chromosome. The condition may occur as childhood-onset ALD or as an adult-onset form of the condition (adrenomyeloneuropathy). It occurs in about 1 in every 20,000 males. Females carry the disease.

  • Childhood-onset ALD is a form of X-linked ALD that usually occurs between 4 and 10 years of age. The white matter of the brain is progressively damaged (leukodystrophy) and symptoms worsen over time. If not diagnosed early, childhood-onset ALD may lead to death within five to 10 years.
  • The adult-onset form (adrenomyeloneuropathy) is a less severe and slowly progressive form of ALD presenting with stiff gait, bladder and bowel dysfunction.
  • Hormone-producing glands (adrenal glands) often fail to produce enough steroids (adrenal insufficiency) in people who have ALD. In Addison's disease, a type of X-linked ALD, people have severe adrenal insufficiency. Neurological symptoms may or may not develop in people who have Addison's disease. Most men with neurological symptoms do develop adrenal insufficiency and require monitoring by an endocrinologist.
  • Women who carry the condition may develop a mild form of adrenomyeloneuropathy.

Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others work together to diagnose your condition. Mayo Clinic doctors have experience diagnosing adrenoleukodystrophy (ALD), which may be difficult to diagnose because the symptoms are similar to other neurological conditions.

To diagnose your condition, your doctor will review your symptoms and your medical and family history. Your doctor will conduct a physical examination and order several tests.

  • Blood testing. Your doctor will order blood tests to check for high levels of very long-chain fatty acids (VLCFA) in your blood, which are a key indicator of adrenoleukodystrophy. Doctors use blood samples for genetic testing to identify defects or mutations that cause ALD. Doctors also use blood tests to evaluate how well your adrenal glands work.
  • Magnetic resonance imaging (MRI). An MRI uses powerful magnets and radio waves to create detailed images of your brain. An MRI allows doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue (white matter) of your brain. Doctors may use several types of MRI to view the most detailed images of your brain and detect early signs of leukodystrophy.
  • Vision screening. Your doctor may order vision screening and other tests for children who aren't experiencing other symptoms.
  • Skin biopsy and fibroblast cell culture. A small sample of skin (skin biopsy) may be taken to check for increased levels of VLCFA in some cases.

Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others work together to determine the most appropriate treatment for people who have adrenoleukodystrophy (ALD).

Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if conducted when neurological symptoms first appear. Doctors also will focus on relieving your symptoms and slowing the progression of the disease.

Your treatment options may include:

  • Stem cell transplant. Stem cell transplant may be an option to help slow or halt the progression of adrenoleukodystrophy in children if the disease is diagnosed and treated early. Stem cells may be taken from bone marrow through bone marrow transplant.
  • Adrenal insufficiency treatment. Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with man-made (synthetic) steroids (corticosteroid replacement therapy).
  • Medications. Your doctor may prescribe medications to help relieve symptoms, including stiffness and seizures.
  • Physical therapy. Physical therapy may help relieve your muscle spasms and reduce muscle rigidity. Your doctors will provide recommendations regarding wheelchairs and other mobility devices if needed.
  • Genetic counseling. Your treatment may include genetic counseling for you and your family. Mayo Clinic doctors trained in hereditary conditions (neurometabolic specialists) explain your diagnosis and the role of genes in your condition. Doctors strongly recommend that you and your family receive genetic testing and counseling.
  • Experience. Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others have experience diagnosing and treating people who have adrenoleukodystrophy and other neurological conditions.
  • Team approach. Mayo Clinic pediatric neurologists work with doctors trained in adrenal hormone function (endocrinologists) and others to develop the most appropriate treatment for your condition.
  • Diagnostic and genetic testing. Mayo Clinic doctors conduct genetic testing and research for people who have adrenoleukodystrophy and their families. The Biochemical Genetics Laboratory at Mayo Clinic in Minnesota is one of the few facilities in the United States that performs blood tests to confirm the diagnosis of adrenoleukodystrophy.
  • Treatment expertise. Mayo Clinic doctors have expertise in providing comprehensive care for children and adults who have adrenoleukodystrophy. The Mayo Clinic Peroxisomal Disorders Program at Mayo Clinic in Minnesota provides integrated care, including stem cell transplantation, for people who have all forms of ALD.

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Doctors trained in neurology, endocrinology, gastroenterology, physical medicine and rehabilitation and others evaluate and treat adults who have adrenoleukodystrophy at Mayo Clinic in Arizona.

Mayo Clinic in Arizona is part of the Arizona Alzheimer's Research Consortium, a statewide research collaboration that studies ways to detect, treat and prevent Alzheimer's disease.

For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.

Doctors trained in neurology, endocrinology, gastroenterology, physical medicine and rehabilitation and others evaluate and treat adults who have adrenoleukodystrophy at Mayo Clinic in Florida.

For appointments or more information, call the Central Appointment Office at 904-953-0853 8 a.m. to 5 p.m. Eastern time, Monday through Friday or complete an online appointment request form.

Doctors trained in neurology, pediatric neurology, endocrinology, gastroenterology, physical medicine and rehabilitation and others evaluate and treat adults and children who have adrenoleukodystrophy at Mayo Clinic in Minnesota. The Mayo Clinic Peroxisomal Disorders Program at Mayo Clinic in Minnesota provides integrated care, including stem cell transplantation, for people who have all forms of ALD.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

Doctors trained in pediatric neurology, neurology, endocrinology, gastroenterology, pediatric and adolescent medicine, physical medicine and rehabilitation and others evaluate and treat children who have adrenoleukodystrophy at Mayo Clinic in Minnesota. The Mayo Clinic Peroxisomal Disorders Program at Mayo Clinic in Minnesota provides integrated care, including stem cell transplantation, for people who have all forms of ALD.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

See information on patient services at the three Mayo Clinic locations, including transportation options and lodging.

Doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists) and others study potential diagnostic tests, improved treatments and outcomes for adrenoleukodystrophy (ALD). Learn more about research in neurology, division-child-adolescent-neurology and blood and marrow transplant.

Doctors study potential treatments, including:

  • Medications to lower very long-chain fatty acids levels in your blood
  • Lorenzo's oil, a mixture of chemicals, which may help reduce or delay symptoms of ALD by inhibiting the enzyme that causes the lengthening of saturated fatty acids
  • Gene therapy to slow progress of the condition

Researchers in the Biochemical Genetics Laboratory at Mayo Clinic in Minnesota study new tests for adrenoleukodystrophy. The Biochemical Genetics Laboratory is one of the few facilities in the United States that performs blood tests to confirm the diagnosis of adrenoleukodystrophy and other metabolic disorders.

Publications

See a list of publications by Mayo doctors on adrenoleukodystrophy and adrenomyeloneuropathy on PubMed, a service of the National Library of Medicine.

Nov. 16, 2012