Adrenoleukodystrophy


Adrenoleukodystrophy

Description, Causes and Risk Factors:

Abbreviation: ALD.

Adrenoleukodystrophy is one of a group of inherited disorders called leukodystrophies in which the fatty covering of nerve fibres, the myelin sheath, is progressively damaged because of a faulty gene. Without the myelin sheath, the nerves do not work as they should.

adrenoleukodystrophy

People with adrenoleukodystrophy do not produce an essential protein, called a transporter protein. This is needed to carry an enzyme that breaks down very long chain saturated fatty acids (VLCFAs) taken into the body in the diet. Accumulation of these VLCFAs (very-long-chain fatty acids) in the brain and adrenal glands results in progressive deterioration in brain and adrenal gland function.

There are several types of ALD, which may be inherited in two different ways, and which can cause different patterns of disease even among people in the same families.

ALD is most commonly inherited as an X-linked condition. This means the abnormal gene is found on the X chromosome. Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It is 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.

Because women have two X chromosomes, they have a spare normal gene as well as the abnormal one, so generally only carry the condition (although they may have a mild form of the disease). Men have only one X, so they are affected by the condition.

X-linked ALD may occur in three forms, with onset of symptoms in either childhood or adulthood.

Neonatal ALD is much less common. In this type of ALD the faulty gene is not X-linked but is found on one of the other chromosomes. This means both boys and girls can be affected.

Symptoms:

Initial symptoms include:

    Behavioral changes.

  • Poor memory.

As the disease progresses, more serious symptoms develop. These include:

    Vision loss.

  • Seizures.

  • Hearing loss.

  • Difficulty swallowing and speaking.

  • Difficulty with walking and coordination.

  • Vomiting.

  • Fatigue.

  • Increased pigmentation (“bronzing”) of the skin, due to adrenal hormone deficiency (Addison's disease).

  • Progressive dementia.

  • Vegetative state or death.

Diagnosis:

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.

Treatment:

There is no known cure for ALD, and the nervous system progressively deteriorates, with death usually occurring between one and ten years after the start of symptoms. Research suggests that a mixture of oleic acid and euric acid, known as Lorenzo's oil, may delay or reduce symptoms in boys with X-linked ALD by lowering levels of VLCFAs. The most benefit is seen when the treatment is used before symptoms develop, before irreversible damage has occurred.

Bone marrow transplants have also been used with some success in boys in the early stages of X-linked ALD but are not without considerable risk. Newer treatments that may lower brain levels of VLCFA are being tested. Treatment with docosahexaenoic acid (DHA) may help young children with neonatal ALD.

Genetic research has identified the transporter proteins and their faulty genes, starting the path towards gene therapy.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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