Adrenoleukodystrophy Research Paper

866 Words 4 Pages
Adrenoleukodystrophy (ALD) is a condition which affects the ability of adrenal glands to produce adrenaline and myelin, which insulates the nerves in the brain and spinal cord. This diminishes the ability of the brain to communicate effectively with the rest of the nerves. This condition was initially identified in the early 1900s and was originally called Schilder-Addison disease (2). The cause of this condition originates in the peroxisomes, which are tiny structures in the cell which assist cells in the fatty acid break down process. When peroxisomes cannot perform the breakdown of Very Long Chain Fatty Acids (VLCF), complications will eventually appear; leading to the accumulation of VLCF in the adrenal organs. According to Thomas C. …show more content…
Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. Followed by a biochemical test, this test allows carrier detection, possible by determination of VLCFA concentrations in plasma and cultured skin fibroblasts, along with a full back ground check is conducted in order to identify key factors, such factors may derive from family history. Preceded from a diagnosis, a dietary guideline is provided to the patient, in order to regulate the consumption of foods high in fat, along with physical therapy and psychological …show more content…
Current research and one of the most promising treatments on the horizon for ALD is gene therapy. This treatment essentially involves the manual implanting of the corrected genetic sequence with the appropriate ‘blueprints’ into cells. After this introduction the cells will continue to reproduce the correct sequence, eradicating the past sequence. Other experiments that have been emplaced such as Mucomyst (acetylcysteine) have shown to stabilize a patient, but the product has been catastrophic. Each patient that underwent this treatment has died within a year. Mucomyst is usually utilized in treating various lung disease where the mucus makes it difficult to breathe. Myelin restoration is another potential possibility in future treatment, targeting a reverse effects of this

Related Documents