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 an enzyme that normally breaks down “very long chain fatty acids” (VLCFA), is missing.  The resulting build up of VLCFA in the brain and adrenal glands in some boys, causes rapid progressive deterioration and eventual death.  Normally, nerve endings are covered with a myelin sheath which helps speed the communication of nerve impulses like insulation on a wire.  Having ALD can cause the myelin to break down, affecting the patient’s coordination and mental development.

ALD most often manifests itself in childhood, appearing in boys between 4 to 8 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 ALD, a less common form of the disease, can manifest between the ages of 10 and 21.  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 ource 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.  If they are further advanced, transplant may not be helpful.