Adrenoleukodystrophy or ALD and Lorenzo's Oil

Disease still not fully understood

Director George Miller attends the European premiere of 'Happy Feet Two' at the Empire cinema Leicester Square on November 20, 2011 in London, England.
Ian Gavan/Getty Images Entertainment/Getty Images

The 1992 movie "Lorenzo's Oil" brought a rare disorder called adrenoleukodystrophy (ALD) to the world's attention. It is a progressive degenerative myelin disorder, meaning that myelin, the "insulation" around nerves, breaks down over time. Without myelin, nerves can't function normally, or at all. Unfortunately, the body can't grow replacement myelin, so the disorder is progressive -- it gets worse over time.

What Causes ALD, and Who Develops It?

ALD is an inherited recessive genetic disorder linked to the X chromosome. Because of the way genetic inheritance works, only boys have the most severe form of ALD. The disorder leaves the body unable to break down big fat molecules, either ones the body makes itself or ones that enter the body through food. Research has shown that this is most likely due to a carrier protein that fails to work correctly and carry the fat molecules to where they would be broken down. The fat molecules build up and clog up cells, and hurt nerve cells in the brain and spinal cord. ALD affects about one in 20,000 males.

One gene, called ABCD1, has been identified as being associated with ALD. Genetic testing can be done to see if a woman has the defective gene. This way, a woman who may have inherited an abnormal gene will know for certain whether or not she has it (is a carrier) and could pass it on to her children.

Do All Boys with ALD Die?

There are several forms that ALD can take. The most devastating type, what Lorenzo Odone had, is the childhood cerebral form, meaning that nerves in the brain are destroyed. About 35 to 40 percent of all cases of ALD are this type, which usually appears between 4 and 8 years of age in boys. These boys will usually become totally disabled in 6 months to 2 years, and die sometime after.

ALD can also appear like multiple sclerosis, in that there is a gradual loss of function in the body but without the severe brain damage of the cerebral type. This second form is called adrenomyeloneuropathy (AMN), represents about 40 to 45 percent of all ALD cases, and affects men in their 20s or middle age.

Approximately 20 percent of females who carry the defective gene for ALD develop nervous system symptoms that resemble adrenomyeloneuropathy, but this begins later in life (age 35 years or later) and results in a milder disease than in affected males.

Because adrenoleukodystrophy damages the adrenal glands, the disorder can begin as Addison's disease, an adrenal gland disorder. This represents about 10 percent of all ALD cases, and affects males between 2 years of age and adulthood. Young men with this form usually also develop AMN by middle age. Boys diagnosed with Addison's disease are usually tested to see if ALD is at the root of the problem.

How Is it Diagnosed?

The diagnosis of ALD is based on the symptoms a child or adult has. An MRI (magnetic resonance imaging) of the brain will have abnormal results. Because fats are not broken down properly, testing the blood concentration of a type of fat called very long-chain fatty acids (VLCFA) reveals abnormal levels in 99 percent of males.

Can ALD Be Cured?

Unfortunately, there is as yet no complete cure for cerebral ALD. However, there are several methods being tried that seem to slow down the destruction of the disease. One method is the use of "Lorenzo's oil," made from olive and rapeseed oil, and a very low-fat diet. The oil, if started early in boys with ALD but no symptoms, is now known to have some benefit in preventing the childhood cerebral form of adrenoleukodystrophy. Researchers are still trying to understand the complex relationships among fats in the body, and how Lorenzo's oil could be further modified to be more effective.

A second treatment for cerebral ALD is bone marrow transplant. The idea is to replace cells that have a defective ALD gene with cells that have a normal ALD gene and will break down fats.

As for adrenomyeloneuropathy (AMN), no treatment has yet been developed. If an adrenal disorder like Addison's disease is present, long-term hormone replacement provides treatment.

How Is Lorenzo Doing? Is He Still Alive?

Sadly, Lorenzo lost his battle with ALD and died on May 30, 2008, one day after his 30th birthday. He is survived by his father, Augusto, his brother Francesco and sister Cristina. His mother, Michaela (portrayed in the movie by Susan Sarandon), died June 10, 2000, of lung cancer.

View Article Sources
  • Moser, Hugh, Ann Moser, Steven J Steinberg, & Gerald V Raymond. "X-Linked Adrenoleukodystrophy." GeneReviews. 27 July 2006. GeneTests. 6 Feb 2009.
  • Information About Lorenzo's Oil. The Myelin Project. 6 Feb 2009.