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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is a degenerative disorder of the sheath covering nerve fibers, known as myelin. A type of leukodystrophy, the victims of ALD are typically male, as the disease is usually inherited in a sex-linked manner on the X chromosome. Leukodystrophies are disorders that affect the growth and/or development of myelin, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without myelin, nerves are unable to conduct an impulse, leading to increasing disability as myelin destruction increases and intensifies. more...

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Leukodystrophies are different from demyelinating disorders such as multiple sclerosis, in which myelin is formed normally, but is lost by immunologic dysfunction or other reasons.

Symptoms

The clinical presentations is largely dependent on the age of onset of the disease. The most frequent type is the childhood-onset one, which normally occurs in males between the ages of 5 and 10 and is characterized by failure to develop, seizures, ataxia, adrenal insufficiency and degeneration of visual and auditory function.

In the adolescent-onset form, the spinal cord dysfunction is more prominent and therefore is called adrenomyeloneuropathy or "AMD". The patients usually present with weakness and numbness of the limbs and urination or defecation problems. Most victims of this form are also males, although female carriers rarely exhibit symptoms similar to AMD.

Adult and neonatal (which tend to affect both males and females and be inherited in an autosomal recessive manner) forms of the disease also exist but they are extremely rare. Some patients may present with sole findings of adrenal insufficiency (Addison's disease).

Diagnosis

The diagnosis is established by clinical findings and the detection of serum long chain fatty acid levels. MRI examination reveals white matter abnormalities, and neuroimaging findings of this disease are quite reminiscent of the findings of multiple sclerosis. Genetic testing for the analysis of the defective gene is available in some centers.

Pathophysiology

The most common form of ALD is X-linked (the defective gene is on the X chromosome, location Xq28), and is characterized by excessive accumulation of very long chain fatty acids (VLCFA) - fatty acids chains with 24-30 carbon atoms (particularly hexacosanoate, C26) in length (normally less than 20). This was originally described by Moser et al in 1981.

The gene (ABCD1 or "ATP-binding cassette, subfamily D, member 1") codes for a protein that transfers fatty acids into peroxisomes, the cellular organelles where the fatty acids undergo β-oxidation (Mosser et al 1993). A dysfunctional gene leads to the accumulation of long-chain fatty acids.

The precise mechanisms through which high VLCFA concentrations cause the disease are still (2005) unknown, but accumulation is severe in the organs affected.

The prevalence of X-linked adrenoleukodystrophy is approximately 1 in 20,000 individuals. This condition occurs with a similar frequency in all populations.

Treatment

While there is no cure for the disease, some dietary treatments, for example, Lorenzo's oil in combination with a diet low in VLCFA, have been used with limited success, especially before disease symptoms appear. A recent study by Moser et al (2005) shows positive long-term results with this approach.

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Lorenzo's oil works - Health - treatment for 5-year-old who had a genetic disease
From Current Science, 12/20/02

BALTIMORE -- Seventeen years ago, Lorenzo Odone, 5, started bumping into furniture. His parents, Augusto and Michaela, took him to a doctor and were given a shocking diagnosis. Lorenzo had adrenoleukodystrophy (ALD), a genetic disease for which there was no cure. ALD's early symptoms include slurred speech and loss of muscle control. The disease eventually leads to blindness, deafness, loss of mental abilities, and, finally, death within about two years.

Determined to help their son, the Odones took matters into their own hands. They combed through medical articles on ALD and learned that the disease strikes boys who lack sufficient a amounts of a natural enzyme that breaks down certain fatty acids in the blood. The fatty acids build up and start attacking myelin--a substance that surrounds the body's nerves like plastic around an electrical wire. Myelin helps speed up the movement of electrical impulses through the nerves.

With the help of some doctors, the Odones concocted a treatment for ALD, a mixture of olive and canola oils. They called the treatment "Lorenzo's oil," which is also the name of a heart-wrenching 1992 movie about the Odones.

By the time the Odones had devised the oil, Lorenzo was seriously disabled. The oil did not reverse his condition, but it kept him alive and his mind alert. He is still alive today.

Many doctors scoffed at Lorenzo's oil and said that luck and his parents' devotion were what kept Lorenzo alive. Unfazed by the doctors' doubts, the Odones publicized their work and urged the parents of other boys who had the genetic defect that leads to ALD to give their sons Lorenzo's oil.

Today, the doctors who dissed the oil may be eating their words. A ten-year study of the treatment has revealed that it works. The study followed 104 young boys who had the genetic defect and were given the oil. After ten years, 76 percent did not have symptoms of ALD. In a second group of boys who had the defect but weren't given the oil, only one-third are still healthy.

After years of fighting with doctors, Augusto Odone says he feels vindicated by the study. Sadly, he cannot share the triumph with Michaela. His fiercely determined wife, who devoted practically every breath to saving her son and other boys who had ALD, died of cancer two years ago.

COPYRIGHT 2002 Weekly Reader Corp.
COPYRIGHT 2002 Gale Group

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