Adrenoleukodystrophy (ALD) is an inherited disorder that affects both males and females. Most cases of ALD occur in males, but females can be carriers of the gene mutation that causes the disorder.
In males, ALD is caused by mutations in the ABCD1 gene, which is located on the X chromosome. This gene encodes a protein that is essential for the proper functioning of the myelin sheath, which is a protective covering that surrounds nerve cells. When this gene is mutated, the myelin sheath does not form correctly, which can lead to a variety of neurological symptoms, including vision loss, seizures, and cognitive impairment.
In females, ALD can be caused by two different types of mutations. The first is an X-linked mutation, which is the same type of mutation that causes ALD in males. The second is a recessive mutation on one of the other chromosomes. This type of mutation is less common, but it can still lead to the same neurological symptoms seen in males with ALD.
Overall, ALD affects both males and females, although it is more common in males. Females can be carriers of the gene mutation that causes the disorder, and some may even manifest symptoms of the disorder. If you think you may have ALD, it is important to speak with your doctor to discuss potential genetic testing and treatment options.