Open AccessEvaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina
Author(s) -
Stacey Lee,
Kristin Clinard,
Sarah P. Young,
Catherine Rehder,
Zheng Fan,
Ali S. Çalıkoğlu,
Deeksha Bali,
Donald B. Bailey,
Lisa M. Gehtland,
David S. Millington,
Hari S. Patel,
Sara E. Beckloff,
Scott J. Zimmerman,
Cynthia M. Powell,
Jennifer Taylor
Publication year - 2020
Publication title -
jama network open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.278
H-Index - 39
ISSN - 2574-3805
DOI - 10.1001/jamanetworkopen.2019.20356
Subject(s) - newborn screening , adrenoleukodystrophy , dried blood spot , peroxisomal disorder , medicine , pediatrics , biology , peroxisome , genetics , receptor
Key Points Question What is the analytical and clinical validity of a mass spectrometric method evaluating very long-chain fatty acyl-lysophosphatidylcholine species for the detection of X-linked adrenoleukodystrophy among newborns in North Carolina? Findings In this newborn diagnostic screening study of 52 301 dried blood spot specimens, 3 male infants were confirmed to have X-linked adrenoleukodystrophy, 3 female infants were identified as heterozygous for X-linked adrenoleukodystrophy (carriers), 1 female infant had a peroxisome biogenesis disorder, 1 female infant had Aicardi-Goutières syndrome, 1 male infant received an indeterminate diagnosis, and 3 female infants had false-positive results. Meaning The newborn screening results suggested that detecting increased concentrations of very long-chain fatty acyl-lysophosphatidylcholine species in dried blood spots is an effective method for identifying infants with X-linked adrenoleukodystrophy.
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