Adrenoleukodystrophy, Leukodystrophy, Zellweger Syndrome, Refsum's Disease explained
Latest updates: Consensus Recommendations for Diagnosis and Management of Vanishing White Matter https://www.youtube.com/watch?v=iKEQqb6YH-k "It is a leukodystrophy and one of the more prevalent forms, and it is particularly severe. It can present at any age, but most commonly appears in children under six years old. The condition leads to progressive neurological decline and death and is caused by a defect in the enzyme EIF2B . EIF2B plays a fundamental role in biology, as it is essential for the translation of DNA into proteins. All proteins in the body depend on EIF2B for their production, and it also serves as a central regulator of the cellular stress response. This makes it a severe disease rooted in core biological processes." The diagnosis of vanishing white matter disease is made using DNA testing and MRI together. Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter: https://www.neurology.org/doi/10...