Adrenoleukodystrophy

Adrenoleukodystrophy is a rare genetic disorder that affects the nervous system and adrenal glands. The condition prevents the body from breaking down certain types of fats called very long-chain fatty acids. These fats build up in cells throughout the body and cause damage over time.

The disease primarily affects males because it is X-linked, meaning the gene mutation is on the X chromosome. The buildup of fatty acids damages the protective covering around nerve cells called myelin. This damage disrupts how nerves send signals throughout the body. The adrenal glands also stop working properly, leading to hormone deficiencies.

Symptoms usually appear in childhood, though some forms develop in adulthood. Early detection through blood testing helps families plan care and manage symptoms before they become severe. Understanding your cortisol levels and adrenal function is an important step in monitoring this condition.

• Muscle weakness and difficulty walking
• Vision problems and hearing loss
• Difficulty swallowing or speaking
• Behavioral changes and learning difficulties
• Seizures or movement disorders
• Dark skin pigmentation
• Fatigue and weight loss
• Low blood pressure
• Vomiting and poor appetite

Some people with adrenoleukodystrophy have adrenal problems years before neurological symptoms appear. Early signs of adrenal insufficiency may be subtle and easy to miss. Regular monitoring helps catch changes before they cause serious complications.

Adrenoleukodystrophy is caused by mutations in the ABCD1 gene on the X chromosome. This gene provides instructions for making a protein that helps break down very long-chain fatty acids. When the gene does not work properly, these fats accumulate in cells and damage tissue. Boys inherit the condition from mothers who carry the gene mutation.

There are no lifestyle or environmental factors that cause adrenoleukodystrophy. The condition is entirely genetic and present from birth. However, triggers like illness or stress can unmask adrenal insufficiency in people who already have the gene mutation. Families with a history of the condition should consider genetic counseling and testing.

Adrenoleukodystrophy is diagnosed through a combination of blood tests, genetic testing, and imaging studies. Blood tests measure cortisol levels to check for adrenal insufficiency, which often appears before neurological symptoms. Specialized tests also measure very long-chain fatty acid levels in the blood. Genetic testing confirms mutations in the ABCD1 gene.

Rite Aid offers cortisol testing through our flagship panel at Quest Diagnostics locations nationwide. Monitoring your cortisol levels helps detect adrenal problems early. If results suggest adrenal insufficiency, your doctor may order additional specialized tests to confirm adrenoleukodystrophy. MRI scans of the brain can show damage to myelin and help determine disease progression.

• Hormone replacement therapy with hydrocortisone or other corticosteroids to treat adrenal insufficiency
• Lorenzo's oil, a mixture of fatty acids that may slow disease progression in some cases
• Stem cell or bone marrow transplant in early stages of childhood cerebral disease
• Physical therapy and occupational therapy to maintain mobility and function
• Speech therapy for swallowing and communication difficulties
• Seizure medications if needed
• Regular monitoring of adrenal function and neurological status
• Nutritional support and feeding assistance when swallowing becomes difficult
• Genetic counseling for families