Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy

摘要

Newborn screening and gene therapy are exciting new advances in the field of metabolic neurodegenerative disorders. This Viewpoint discusses X-linked adrenoleukodystrophy (ALD), an inherited disorder affecting the adrenals and nervous system white matter. X-linked adrenoleukodystrophy is caused by mutations in the gene ABCD1, which maps to Xq28 and encodes the adrenoleukodystrophy protein. This protein is an ATP-binding cassette transporter that facilitates the transport of very-long-chain fatty acids (VLCFA) into the peroxisome for degradation. ABCD1 mutations lead to an increase in VLCFA in all tissues. There are at least 2552 known ABCD1 mutations, of which 759 are nonrecurrent, and there is no genotype-phenotype correlation, even within the same family.1.