The Pathogenesis of Adrenoleukodystrophy

Abstract

Adrenoleukodystrophy (ALD) is a rare, inherited disorder that affects the brain, spinal cord, and adrenal glands. It is caused by mutations in the ABCD1 gene, which provides instructions for making a protein called ABCD1, which is involved in the metabolism of very long-chain fatty acids (VLCFAs). In ALD, the body cannot properly break down and clear VLCFAs, which can lead to the accumulation of these fatty acids in the brain and other tissues. This accumulation can cause inflammation and damage to cells and tissues, leading to various symptoms.  Symptoms of ALD may vary depending on the type of ALD and the severity of the condition. Common symptoms include neurological problems, such as difficulty walking, speaking, behavioral changes, and problems with the adrenal gland, such as adrenal insufficiency which is a condition in which the adrenal glands do not produce enough hormones. ALD is a progressive disorder, meaning symptoms may worsen over time if left untreated. Treatment for ALD typically involves medications and supportive care to manage symptoms and prevent complications. Sometimes, a bone marrow transplant may be recommended to replace damaged cells and tissues.

Genetic testing is available for ALD and can be used to diagnose the disorder and identify people at risk of developing it. Early diagnosis and treatment can help improve the chances of a full recovery and a good quality of life for people with ALD.