Mutations & Biochemistry

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, spinal cord, peripheral nerves, the adrenal glands and testis are affected. Ultimately the myelin sheath that surrounds the nerves is destroyed causing neurological problems, and the adrenal gland malfunction causes Addison’s disease.

The pages in this section focus on the genetics of ALD (including the catalog of the 798 unique mutations and variations in the ABCD1 gene), VLCFA and the function of ALDP.

Last modified | 2018-02-21