Question

Fatal demyelinating disease caused by mutations in the ABCD1 gene

Answer 1

Adrenoleukodystrophy (ALD) is a genetic disorder causing demyelination due to mutations in the ABCD1 gene. It leads to the accumulation of lipids in cells, damaging the myelin. The disease is progressive and has no cure, but different treatments are being researched.

Step-by-step explanation:

Adrenoleukodystrophy (ALD) is a fatal demyelinating disease caused by mutations in the ABCD1 gene. This genetic disorder results in the accumulation of lipids with high molecular weights in cells, leading to damage in the myelin that surrounds nerves. ALD has two causes: an autosomal recessive allele that causes neonatal ALD, and a mutation in the ABCD1 gene located on the X chromosome. The disease is progressive and currently has no cure, although treatments like Lorenzo's oil and gene therapy are being explored.