Research studies have shown the effect of sodium phenylbutyrate in adrenoleukodystrophy.
Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 18,000 people. It most severely affects boys and men and knows no racial, ethnic, or geographic barriers. This brain disorder destroys myelin, the protective sheath that surrounds the brain’s neurons. The nerve cells that allow us to think and to control our muscles.
The most devastating form of ALD appears in childhood, generally between the ages of four and ten years old. Normal, healthy boys suddenly begin to regress. At first, they simply show behavioral problems, such as withdrawal or difficulty concentrating. Gradually, as the disease ravages their brain, their symptoms grow worse, including blindness and deafness, seizures, loss of muscle control, and progressive dementia. This relentless downward spiral leads to either death or permanent disability, usually within 2 to 5 years from diagnosis.