Introduction to Adrenoleukodystrophy

Adrenoleukodystrophy is an X-linked recessive genetic disease that causes significant damage to the myelin sheath, the protective membrane that encloses nerve cells found in the brain. Patients with adrenoleukodystrophy (also known as X-ALD because of its inheritance pattern) are unable to break down saturated very long chain fatty acids (VLCFA) in their brain and adrenal cortex because they lack the proper enzyme that carries the VLCFA into the peroxisome to be decomposed. The peroxisome is a cell organelle present in all body cells except red blood cells that is typically responsible for the degradation of VLCFA.

The inability to break down high concentrations of VLCFA causes the loss of myelin and gradual dysfunction of the adrenal gland. It is estimated that about one in every 17,000 newborn males worldwide are affected with X-ALD, and it affects all ethnic groups. There are four subtypes of ALD: Childhood Cerebral ALD, Adrenomyeloneuropathy (AMN), Addison-Only, and Carriers.