Adrenoleukodystrophy (ALD) is an X-linked genetic disorder that affects the myelin sheath surrounding nerve cells in the brain and progressive degeneration of the adrenal glands. The disorder is caused by mutations in the ABCD1 gene, which encodes the ALD protein, which is involved in transporting very long-chain fatty acids (VLCFA) out of cells.
Diagnosis of ALD is typically made by detecting elevated levels of VLCFAs in the blood. In addition, genetic testing can be used to identify mutations in the ABCD1 gene. Magnetic resonance imaging (MRI) can be used to evaluate the brain for white matter lesions, which are indicative of ALD.
Differential diagnosis of ALD includes other diseases that can cause similar MRI findings, such as multiple sclerosis, neuromyelitis optica, and leukodystrophy.
Treatment of ALD is typically symptomatic and supportive. For neurologic symptoms, physical and occupational therapy can be helpful. In addition, bone marrow or stem cell transplantation may be used to replace the defective ALD protein with healthy copies, although this is a complex and risky procedure.
Prognosis for ALD is variable, and depends on the age of onset and the type of mutation. If the disease is diagnosed and treated early, the prognosis is generally more favorable. However, it is important to note that the disease can progress rapidly, and can result in severe neurological disability.