Adrenoleukodystrophy (ALD) is an inherited genetic disorder that affects the nervous system, adrenal glands, and white matter of the brain. It is caused by mutations in the ABCD1 gene, which is located on the X chromosome. ALD is an X-linked recessive genetic disorder, meaning that it is inherited in a recessive pattern and is only expressed when two copies of the mutated gene are present.
In an X-linked recessive disorder, males, who have only one X chromosome, are affected by the disorder more severely than females, who have two X chromosomes. Therefore, males with ALD typically experience more severe symptoms than females, as they only need one copy of the mutated gene to express the disorder.
ALD is caused by mutations in the ABCD1 gene, which is located on the X chromosome. The ABCD1 gene is responsible for making a protein called ALDP, which helps to break down very-long-chain fatty acids (VLCFAs). Mutations in the ABCD1 gene lead to the production of an abnormal form of ALDP, or no ALDP at all, resulting in the buildup of VLCFAs in the brain and nervous system. This buildup of VLCFAs leads to the development of ALD.
In summary, ALD is an X-linked recessive genetic disorder caused by mutations in the ABCD1 gene. Males are more severely affected than females, as they only need one copy of the mutated gene to express the disorder.