Adrenoleukodystrophy (ALD)

  1. Overview

    Adrenoleukodystrophy (ALD) is a rare and inherited metabolic disorder that affects the nervous system’s white matter and the adrenal glands.

  2. Cause

    ALD is caused by a mutation in the ABCD1 gene, which results in the buildup of very long-chain fatty acids (VLCFAs) in different organs of the body. This accumulation leads to damage in the myelin sheath, a protective cover around the nerve fibers, and affects the adrenal cortex, disrupting the production of certain hormones.

  3. Types

    There are several forms of ALD, including:

    • Childhood cerebral ALD (CCALD): This is the most severe form, typically affecting young boys and leading to progressive neurological deterioration.
    • Adrenomyeloneuropathy (AMN): This form primarily affects adults, leading to mobility and sensory issues.
    • Addison disease: This refers to adrenal insufficiency and can occur in both males and females.

  4. Symptoms

    The symptoms of ALD can vary depending on the type and age of onset. They may include:

    • Behavioral changes
    • Learning difficulties
    • Coordination and mobility problems
    • Visual and hearing impairment
    • Hormonal imbalances

  5. Treatment

    Currently, there is no cure for ALD, but certain treatments can help manage the symptoms and delay progression. These may include medications, dietary interventions, and stem cell transplantation in specific cases.