ladrenoleucodistrofia

Ladrenoleucodistrofia, often abbreviated as X-ALD, is a rare genetic disorder that affects the nervous system and the adrenal glands. It is inherited in an X-linked recessive pattern, meaning it primarily affects males. The condition is caused by mutations in the ABCD1 gene, which is responsible for producing a protein called ALD protein. This protein is involved in the breakdown of very long-chain fatty acids (VLCFAs).

In X-ALD, the malfunctioning ABCD1 gene leads to an accumulation of VLCFAs in the body. These fatty acids build up in the myelin sheath, the protective covering around nerve fibers in the brain and spinal cord. This buildup damages the myelin, impairing nerve signal transmission and leading to neurological symptoms. The adrenal glands, which produce essential hormones, can also be affected.

The symptoms of X-ALD vary widely and depend on the specific type of the disease. The most common and severe form is cerebral X-ALD, which typically begins in childhood and is characterized by progressive neurological deterioration, including behavioral changes, cognitive decline, vision and hearing loss, and motor skill impairment. Another form, adrenomyeloneuropathy (AMN), affects the spinal cord and peripheral nerves, leading to progressive weakness and stiffness in the legs, and often occurs in adulthood. Some individuals may have milder symptoms or be asymptomatic carriers.

Diagnosis of X-ALD involves genetic testing to identify mutations in the ABCD1 gene and biochemical tests to measure VLCFA levels in the blood. Currently, there is no cure for X-ALD, but treatments focus on managing symptoms and slowing disease progression. Hematopoietic stem cell transplantation (HSCT) can be a potentially curative option for some patients, particularly those diagnosed early in the cerebral form. Hormone replacement therapy is used to manage adrenal insufficiency. Dietary modifications and other supportive therapies are also employed.