Adrenoleukodystrophy

What is Adrenoleukodystrophy?

Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects the nervous system and the adrenal glands. It is characterized by the buildup of very long-chain fatty acids (VLCFAs) in the body, which can cause damage to the myelin sheath that insulates nerve cells in the brain.

Side Effects of Adrenoleukodystrophy

The symptoms and side effects of Adrenoleukodystrophy vary depending on the type and progression of the disease. In its most severe form, cerebral ALD (cALD), symptoms typically appear in childhood and can include:

• Progressive neurological deterioration
• Vision and hearing loss
• Difficulty with motor function and coordination
• Seizures
• Behavioral changes
• Adrenal gland dysfunction (Addison’s disease)

In milder forms of Adrenoleukodystrophy , symptoms may appear later in life and primarily affect the adrenal glands, causing adrenal insufficiency.

How is Adrenoleukodystrophy Diagnosed?

Diagnosing Adrenoleukodystrophy often involves a combination of clinical evaluation, genetic testing, and biochemical testing to measure levels of VLCFAs in blood samples. Magnetic resonance imaging (MRI) of the brain can also show characteristic changes in the white matter, which helps in confirming the diagnosis.

Potential Treatment of Adrenoleukodystrophy

Currently, there is no cure for Adrenoleukodystrophy , but treatment aims to manage symptoms and slow the progression of the disease. In Germany, treatment options may include:

• Hematopoietic Stem Cell Transplantation (HSCT): This procedure is most effective when performed in the early stages of cerebral ALD before irreversible neurological damage has occurred. HSCT involves replacing the patient’s bone marrow with healthy stem cells from a matched donor, which can help reduce VLCFA levels and prevent further damage to the nervous system.

• Lorenzo’s Oil: This medication, a mixture of oleic acid and erucic acid, may be prescribed to lower VLCFA levels in the blood. It is most effective in preventing the onset of symptoms in boys who have not yet developed cerebral ALD.

• Symptomatic Treatment: Depending on the symptoms present, patients may receive supportive care such as physical therapy, medications for seizure control, hormone replacement therapy for adrenal insufficiency, and counseling or behavioral therapy for psychological symptoms.

• Research and Clinical Trials: Ongoing research is exploring new treatment approaches, including gene therapy and alternative transplant methods, which may offer hope for future treatments.

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