Adrenoleukodystrophy (ALD) is a rare, genetic disorder that affects the nervous system, adrenal glands, and white matter of the brain. It is characterized by the progressive destruction of the myelin sheath, the protective covering around nerve cells, and is currently incurable.
What is Adrenoleukodystrophy?
Adrenoleukodystrophy (ALD) is a rare, inherited disorder that affects the nervous system and adrenal glands. It is caused by a mutation in the ABCD1 gene, which is responsible for the production of a protein called ALDP (adrenoleukodystrophy protein). This protein helps the body break down a type of fat called very-long-chain fatty acids (VLCFAs). Without VLCFAs, the myelin sheath, which is the protective covering around nerve cells, begins to break down. This leads to an array of symptoms including behavioral and cognitive changes, vision and hearing loss, seizures, and difficulty walking.
Is Adrenoleukodystrophy Curable?
At this time, there is no cure for Adrenoleukodystrophy (ALD). However, there are treatments that can help slow the progression of the disease and manage its symptoms. These treatments include dietary modifications, enzyme replacement therapy (ERT), stem cell transplants, and gene therapy. These treatments are not always successful, and many of them are still experimental.