X-linked adrenoleukodystrophy screening
Also written as: X-ALD — X-linked adrenoleukodystrophy
Newborn screening for a genetic disorder affecting the nervous system and adrenal glands by measuring very long-chain fatty acids.
Full Definition
X-linked adrenoleukodystrophy (X-ALD) screening is a relatively new addition to many newborn screening panels, designed to detect a serious genetic disorder that affects the nervous system, adrenal glands, and testes. The screening test measures levels of very long-chain fatty acids (VLCFAs), particularly C26:0 lysophosphatidylcholine, in dried blood spots. X-ALD is caused by mutations in the ABCD1 gene, leading to accumulation of VLCFAs and progressive damage to myelin and adrenal cortex. Early detection enables monitoring and potential treatment with Lorenzo's oil, dietary management, or stem cell transplantation before irreversible neurological damage occurs.
Usage
Usage note: Hyphenate X-linked when used as a compound modifier; may be abbreviated as X-ALD in technical contexts.
In Context
- "X-linked adrenoleukodystrophy screening was added to the state panel following recent evidence of treatment efficacy." — Policy document
- "Elevated VLCFA levels on X-linked adrenoleukodystrophy screening require genetic confirmation." — Clinical guideline