Diagnosis

To diagnose ALD, your doctor will review your symptoms and your medical and family history. Your doctor will conduct a physical examination and order several tests, including:

• Blood testing. These tests check for high levels of very long-chain fatty acids (VLCFAs) in your blood, which are a key indicator of adrenoleukodystrophy.

  Doctors use blood samples for genetic testing to identify defects or mutations that cause ALD. Doctors also use blood tests to evaluate how well your adrenal glands work.

• MRI. Powerful magnets and radio waves create detailed images of your brain in an MRI scan. This allows doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue (white matter) of your brain. Doctors may use several types of MRI to view the most-detailed images of your brain and detect early signs of leukodystrophy.
• Vision screening. Measuring visual responses can monitor disease progression in males who have no other symptoms.
• Skin biopsy and fibroblast cell culture. A small sample of skin may be taken to check for increased levels of VLCFA in some cases.