Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is an inherited disorder affecting the brain, spinal cord, and adrenal glands. It is caused by a mutation in the ABCD1 gene, which is responsible for producing an enzyme that breaks down long-chain fatty acids. ALD causes degeneration of the myelin sheath, the protective covering of nerve cells, leading to a wide range of neurological and physical symptoms. ALD primarily affects males, but can also affect females. Treatment for ALD includes dietary modifications, enzyme replacement therapy, stem cell transplantation, and gene therapy. It is important to diagnose ALD early in order to minimize the health and neurological consequences of the condition.