AOC1
Description
AOC1, also known as ABCD1, is a gene responsible for encoding a peroxisomal enzyme called ALD. This enzyme plays a crucial role in breaking down very long-chain fatty acids (VLCFAs) in the body. Mutations in the AOC1 gene can lead to a build-up of VLCFAs, primarily in the brain and adrenal glands, causing a range of neurological and adrenal problems. The most severe form of AOC1 deficiency is X-linked adrenoleukodystrophy (X-ALD), a debilitating genetic disorder that can lead to progressive neurological deterioration, adrenal insufficiency, and even death.
Associated Diseases
- X-linked adrenoleukodystrophy (X-ALD)
- Adrenomyeloneuropathy (AMN)
- Childhood cerebral adrenoleukodystrophy (CCALD)
- Adrenal insufficiency
Did you know?
X-ALD affects primarily males due to its inheritance pattern on the X chromosome.
