期刊
CLINICA CHIMICA ACTA
卷 552, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.cca.2023.117653
关键词
X-linked adrenoleukodystrophy; Liquid chromatography-tandem mass spectrometry; Newborn screening
This study proposes an effective method for screening X-ALD and evaluates the performance of newborn screening for X-ALD in Guangzhou. The LC-MS/MS method can accurately identify X-ALD through analysis of C26:0-LPC.
Background: X-linked adrenoleukodystrophy (X-ALD) is a rare X-linked disease caused by mutations of the ABCD1 gene. C26:0-lysophosphatidylcholine (C26:0-LPC) has been proved to be an accurate biomarker for X-ALD. This study aims to propose an effective method for screening of X-ALD and to evaluate the performance of the newborn screening (NBS) assay for X-ALD in Guangzhou. Methods: C26:0-LPC in dried blood spots (DBS) was extracted by methanol solution containing isotope-labelled internal standard (C26:0-d4-LPC) and analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). The sensitivity of the method was assessed in eight male X-ALD patients, two female carriers and 583 healthy controls. The method was conducted on 43,653 newborns. Next generation sequencing was performed on screen-positive samples. Plasma analysis of very long-chain fatty acids and genetic counselling were per-formed by way of follow-up.Results: Elevated C26:0-LPC were 100% sensitive for screening of X-ALD. Of 43,653 newborns, 32 (18 males, 14 females) screened positive. Of these, 14 (43.7%) were identified ABCD1 variants, including seven hemizygous males and seven heterozygous females, and two (6.3%) were diagnosed with other peroxisomal disorders. Conclusion: The LC-MS/MS method for screening of X-ALD can identify males, heterozygous females and other peroxisomal disorders. The incidence of X-ALD in Guangzhou is not low.
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