ALDd

ALDd, also known as Adrenoleukodystrophy, is a rare genetic disorder that primarily affects males. It is caused by mutations in the ABCD1 gene, which is responsible for producing a protein involved in the metabolism of very-long-chain fatty acids. These fatty acids are essential for the proper functioning of the nervous system and adrenal glands. The disorder is characterized by a progressive accumulation of very-long-chain fatty acids in the brain and adrenal glands, leading to a variety of symptoms.

The most common form of ALDd is X-linked adrenoleukodystrophy (X-ALD), which is inherited in an X-linked recessive pattern. This means that the gene responsible for the disorder is located on the X chromosome, and males are more commonly affected because they have only one X chromosome. Females can also be affected, but they typically have a milder form of the disorder due to the presence of a second X chromosome, which may carry a functional copy of the ABCD1 gene.

The symptoms of ALDd can vary widely and may include progressive neurological deterioration, adrenal insufficiency, and a characteristic "flapping" tremor. The disorder can be diagnosed through genetic testing, which involves analyzing the ABCD1 gene for mutations. There is currently no cure for ALDd, but treatment options are available to manage symptoms and slow the progression of the disorder. These may include medications to manage adrenal insufficiency, dietary modifications to reduce the accumulation of very-long-chain fatty acids, and, in some cases, hematopoietic stem cell transplantation. Supportive care and rehabilitation services are also important components of managing ALDd.