Diagnostic Testing

Once ALD is suspected, there are two tests that must be done: a blood test and a brain scan. The blood test analyzes the amount of very long chain fatty acids, which are elevated in ALD. This test has the highest degree of accuracy in males; however, it can sometimes miss the presence of the mutated gene in women who are carriers of the disease.

If the blood test suggests ALD, a magnetic resonance imaging scan (MRI) will be performed to determine if the disease has begun to do damage to the brain. Lesions on the brain caused by the destruction of the myelin will appear on MRI before any neurological or psychological symptoms appear. The MRI scan will produce something called a Loes score, which rates the severity of the damage to the brain on a scale from 0 to 34. A score of 0.5 or less is normal; a score of 14 or more indicates severe ALD.