Adrenoleukodystrophy (ALD)
https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12571
This article reviews the possible applications and benefits of selective screening for X-linked Adrenoleukodystrophy (ALD). This condition is a rare, genetic disorder characterized by progressive neurodegeneration, adrenal insufficiency, and cerebral inflammatory disease. It is an X- linked condition meaning that male individuals are mostly liked to be affected by the symptoms of the disease. Specifically, patients with ALD do not show any symptoms of the disease when they are born and usually develop adrenal insufficiency (80% of ALD cases) in the first decade of life. Moreover, a lot of ALD- patients (30-40%) tend to develop a cerebral disease in their early years. The cause underlying ALD is typically mutations in the ABCD1 gene liable for the ABCD1 protein production. In healthy individuals, the protein transfers very long-chain fatty acids (VLCFA) from the cell to the organelles responsible for their degradation. When there is a mutation, the protein’s function is impaired leading to an abnormal accumulation of VLCFA inside the cells which can cause toxicity. The main organs and tissues affected are the central and peripheral nervous system, the brain, and the adrenal glands. The symptoms can vary from mild to severe. There are treatments for the symptoms of the disease which can ameliorate the overall clinical image of the patient when administered in the early phase but no definite cure for the disease. The Netherlands is the first country to implement selective screening for ALD in newborn males. Selective screening is the detection of a disease in an early stage using a blood sample. In this case, selective screening was based on the presence of elevated VLCFA levels in cells, with abnormally high quantities being an indicator of the condition. Patients can start a treatment plan after the diagnosis, decreasing the severity of the symptoms and increasing their life quality. Overall, it was found that selective screening is a successful way to detect ALD at a young age enabling treatment possible and effective.