Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects boys and men. It is caused by the breakdown of the myelin sheath, the protective coating on nerve cells in the brain. ALD is inherited in an X-linked recessive pattern, meaning it is passed from mother to son.
Genetic Causes of ALD
ALD is caused by mutations in the ABCD1 gene, located on the X chromosome. Mutations in this gene prevent the body from breaking down very long chain fatty acids (VLCFAs). This leads to a buildup of VLCFAs in the brain, which damages the myelin sheath, leading to neurological problems.
Who Is Affected by ALD?
ALD is an X-linked disorder, meaning it is passed from mother to son. While boys and men are the only ones affected by ALD, female carriers can also experience mild symptoms.
Symptoms of ALD
The symptoms of ALD vary depending on the type of ALD. Common symptoms include problems with vision, hearing, balance, and coordination, as well as seizures, behavioral changes, and learning disabilities.
Diagnosis and Treatment
ALD is usually diagnosed through genetic testing. Treatment for ALD depends on the type and severity of the condition. It may include physical therapy, medications, and diet changes. In some cases, a bone marrow transplant may be recommended.