Tag: ABCD1 gene

  • Giant Axonal Disease

    Giant Axonal Disease Definition and Description of Giant Axonal Disease Giant Axonal Disease (GAD) is a rare, inherited neurological disorder characterized primarily by the presence of giant axons—enlarged nerve fibers—within the peripheral and central nervous systems. It is caused by mutations in the ABCD1 gene, which is responsible for the production of a protein involved…

  • ALD

    ALD Definition and Description of ALD Adrenoleukodystrophy (ALD) is a genetic disorder that affects the adrenal glands and the white matter of the brain. It is caused by the inability to metabolize very long-chain fatty acids (VLCFAs) due to mutations in the ABCD1 gene located on the X chromosome. This leads to the accumulation of…