With the release of the 1992 film Lorenzo's Oil, Adrenoleukodystrophy, or ALD, was brought to the attention of the general public. ALD is a rare genetic disorder (affecting one in 100,000 males), where "very long chain fatty acids" (VLCFA), are not correctly broken down in the body.
The resulting build up of VLCFA in the brain in some boys, causes rapid progressive neurologic deterioration and eventual death. It is not known why this cerebral form of ALD happens in particular boys and not others. Whether treatment with Lorenzo's oil from early in life can change the number of boys that go on to have the cerebral form of ALD is being studied. However, it is clear that Lorenzo's oil is not of benefit once the cerebral form of ALD is present.
Cerebral ALD most often manifests itself in childhood, appearing in boys between four to ten years of age. The child will develop normally until the onset of the disease, at which point parents will first begin to notice behavioral changes, such as hyperactivity, poor performance in school, and short attention span. Early physical symptoms include increasingly awkward walking, loss of coordination, and impaired vision and hearing. Within several years these boys with the cerebral form of ALD deteriorate into a vegetative state which can persist for up to ten years before death. Occasionally cerebral ALD will become apparent in older boys and in your men. In these cases, progression may be slower than in younger boys.
Because ALD is genetic, it is difficult to cure. Current approaches for families affected by ALD include genetic counseling for parents who are carriers of the disease and improvements in early detection of the disease. For boys that are known to have ALD based on a family history and increased VLCFA levels, close monitoring including MRI scans are important, as they will often show early signs of cerebral ALD before any symptoms are seen.
Transplant is the only effective treatment for boys with the cerebral form of ALD. BMT has been able to accomplish a stabilization of the disease process, and in some instances even improvement in intelligence, provided transplant is performed early. If they are further advanced, transplant may not be helpful. Studies are ongoing at the University of Minnesota to explore new therapies that may achieve better outcomes in association with transplantation.