Adrenoleukodystrophy (ALD) is a rare, genetic disorder characterized by the breakdown or loss of the myelin
sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland. ALD is one of a group of genetic
disorders called the leukodystrophies that cause damage to the myelin sheath, the fatty covering — which acts as an insulator —
on nerve fibers in the brain.
There are several forms of ALD. Onset of the classic childhood form, which is the most severe and affects only boys, may
occur between ages 4 and 10. Features of this form may include visual loss, learning disabilities, seizures,
dysarthria (poorly articulated speech), dysphagia (difficulty swallowing), deafness, disturbances of gait and coordination, fatigue,
intermittent vomiting, melanoderma (increased skin pigmentation), and progressive dementia. The most common symptoms are
usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance.
People with ALD accumulate high levels of saturated, very long chain fatty acids in their brain and adrenal cortex
because the fatty acids are not broken down by an enzyme in the normal manner. So, when the ALD gene was discovered
in 1993, it was a surprise that the corresponding protein was in fact a member of a family of transporter proteins, not an enzyme.
It is still a mystery as to how the transporter effects the function the fatty acid enzyme, and for that matter, how high levels of very
long chain fatty acids cause the loss of myelin on nerve fibers. More recently, all the transporters related to ALD protein have been
found in the yeast Saccharomyces cerevisiae, and a mouse model for the human disease has been developed. These and other
molecular biology approaches should further our understanding of ALD and hasten our progress towards effective therapies.
Current treatment involves a strict no-fat diet and daily doses of Lorenzo's Oil,
named for Lorenzo Odone whose story is chronicaled in the 1993 movie
There are lots of medical resources on the web about ALD, from laymans terms to highly
scientific designed for the medical community. I've provided a list of these on
our ALD Resources page.