adrenoleukodüstrofia

Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects the adrenal glands and the white matter of the brain. It is characterized by the buildup of very long chain fatty acids (VLCFAs) in the body, which can damage the myelin sheath that insulates nerve fibers in the brain and spinal cord. This damage disrupts the normal transmission of nerve impulses.

ALD is an X-linked recessive disorder, meaning it primarily affects males. Females can be carriers, meaning they have one copy of the altered gene and may experience milder symptoms or be asymptomatic. The gene responsible for ALD is ABCD1.

Symptoms of ALD vary depending on the specific form of the disease and can manifest in childhood or adulthood. The most common form in childhood is childhood cerebral ALD, which can lead to rapid neurological decline, cognitive impairment, vision and hearing loss, and motor deficits. Adulthood-onset ALD, also known as adrenomyeloneuropathy (AMN), typically affects the spinal cord and peripheral nerves, causing progressive leg weakness, spasticity, and sensory problems. Adrenal insufficiency can also occur in both childhood and adult forms.

Diagnosis of ALD is typically made through blood tests that measure VLCFA levels. Genetic testing can confirm the diagnosis and identify carriers. There is currently no cure for ALD, but treatments focus on managing symptoms and slowing disease progression. These can include hormone replacement therapy for adrenal insufficiency, physical therapy, and in some cases, hematopoietic stem cell transplantation or gene therapy, which are still considered experimental for certain forms of the disease. Early diagnosis and monitoring are crucial for the best possible outcomes.