Lessons from the first decade of adrenoleukodystrophy newborn screening in the United States

Adrenoleukodystrophy is an X-linked genetic condition causing the accumulation of very long-chain fatty acids in the brain, spinal cord, adrenal glands, and testes. Males with adrenoleukodystrophy must undergo serial evaluation for neurological and endocrine sequela. There is no genotype/phenotype correlation or predictive biomarker to guide clinical evaluation, and an estimated 86% of male children with adrenoleukodystrophy will develop adrenal insufficiency. New York became the first state to enact adrenoleukodystrophy newborn screening in 2013.
Source: Journal of Pediatric Nursing - Category: Nursing Authors: Source Type: research