cerebral adrenoleukodystrophy
Cerebral adrenoleukodystrophy (CALD) is a rare genetic disorder that primarily affects the brain and adrenal glands. It is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in the body. This buildup damages the myelin sheath, the protective covering of nerve fibers, resulting in neurological symptoms such as cognitive decline, behavioral changes, and motor difficulties.
CALD typically manifests in young boys between the ages of 4 and 10. Early diagnosis is crucial for effective management, which may include stem cell transplantation or gene therapy. Without treatment, the condition can lead to severe disability and early death.