Endocrine Abstracts

Adrenoleukodystrophy (ALD) is a monogenic, X-linked hereditary disorder. Mutation in the ABCD1 gene results in the adrenoleukodystrophy protein (ALDP) deficiency which is involved in the intracellular transport and metabolism of very long-chain fatty acids (VLCFAs). Consequently, VLCFAs accumulate in the central and peripheral nervous systems and adrenal glands leading to the destruction of affected tissues and specific symptoms and signs. There are four distinct types of ALD ...