Clinical & Diagnosis

Clinical presentation and Diagnosis of X-ALD

X-ALD is an inherited metabolic storage disease whereby a defect in a specific enzyme results in the accumulation of very long-chain fatty acids (VLCFA) in tissues of the body, especially the brain and the adrenal glands. Ultimately the myelin sheath that surrounds the nerves is destroyed causing neurologic problems, and the adrenal gland malfunction causes Addison’s disease.

This section is focused on the clinical presentation of the disease and the diagnosis of X-ALD.