Adrenoleukodystrophy (ALD)

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 21,000 males) characterized by the inability of the body to break down "very long chain fatty acids" (VLCFA). The resulting build-up of VLCFA can cause dysfunction of the adrenal glands as well as the central nervous system (CNS). Normally, nerves are coated with myelin sheaths, which help in the propagation of signals to the nerve endings (much as insulation improves the conduction of electricity in a wire). Having ALD can cause the myelin to break down (de-myelination), causing neurologic dysfunction. When the de-myelination occurs in the brain (cerebral ALD), rapidly progressive neurologic deterioration and eventual death ensue.

Cerebral ALD most often manifests itself in childhood, appearing in boys between four to eight 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 two years these boys with the cerebral form of ALD deteriorate into a vegetative state which can persist for up to ten years before death.

Adolescent cerebral ALD, a less common form of the disease, can manifest between the ages of ten and twenty-one. Its symptoms and prognosis are the same as childhood ALD; however, this manifestation of the illness has a slower progression.

Because ALD is genetic, it is difficult to cure. Current approaches to ALD include genetic counseling for parents who are carriers of the disease, and improvements in early detection of the disease in unborn children. Researchers are attempting to discover if dietary changes have any effect on the progression of ALD. To date the results have not been encouraging. This diet involves removing ingested sources of VLCFA and adding "Lorenzo's Oil" (a combination of olive oil and rapeseed oil).

Other treatment methods include using gene therapy and BMT. In gene therapy, researchers use a virus to place the gene into the patient's cells. Similarly, transplant of bone marrow or cord blood cells from a healthy person provides a source of the missing gene product. 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. Transplant may not be helpful for boys with very advanced cerebral disease.

Click here for more detailed information on treatment for ALD at the University of Minnesota Amplatz Children's Hospital.