Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected. Approximately one-third of affected males develop childhood cerebral adrenoleukodystrophy, which progresses rapidly to severe disabi...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/8/1/6 |
| _version_ | 1827648541704585216 |
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| author | Barbara K. Burton Rachel Hickey Lauren Hitchins Vera Shively Joan Ehrhardt Laura Ashbaugh Yin Peng Khaja Basheeruddin |
| author_facet | Barbara K. Burton Rachel Hickey Lauren Hitchins Vera Shively Joan Ehrhardt Laura Ashbaugh Yin Peng Khaja Basheeruddin |
| author_sort | Barbara K. Burton |
| collection | DOAJ |
| description | X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected. Approximately one-third of affected males develop childhood cerebral adrenoleukodystrophy, which progresses rapidly to severe disability and death. In these cases, early surveillance and treatment can be lifesaving, but only if initiated before the onset of neurologic symptoms. Therefore, X-ALD was added to the Recommended Uniform Screening Panel. We report outcomes of the initial screening of approximately 276,000 newborns in Illinois. The lipid C26:0 lysophosphatidylcholine (C26:0-LPC) was measured in dried blood spots (DBS) using liquid chromatography with tandem mass spectrometry. Results ≥ 0.28 µmol/L were considered screen positive. Of 18 screen positive results detected, 12 cases were confirmed. Results were reported as borderline if initial and repeat analyses were ≥0.18 and <0.28 µmol/L. Of the 73 borderline screen results, 57 were normal after analysis of a second sample. Five X-ALD cases were identified from borderline screens. Newborn screening of X-ALD was successfully implemented in Illinois, and results were comparable to reports from other states. Early identification of infants with this potentially life-threatening disorder will significantly improve outcomes for these children. |
| first_indexed | 2024-03-09T19:40:40Z |
| format | Article |
| id | doaj.art-a55cbda403f942319ca5a6d9d4eebe9c |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-09T19:40:40Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-a55cbda403f942319ca5a6d9d4eebe9c2023-11-24T01:39:29ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-01-0181610.3390/ijns8010006Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois ExperienceBarbara K. Burton0Rachel Hickey1Lauren Hitchins2Vera Shively3Joan Ehrhardt4Laura Ashbaugh5Yin Peng6Khaja Basheeruddin7Department of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USADepartment of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USADepartment of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USADepartment of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USAOffice of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USAOffice of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USANewborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USANewborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USAX-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected. Approximately one-third of affected males develop childhood cerebral adrenoleukodystrophy, which progresses rapidly to severe disability and death. In these cases, early surveillance and treatment can be lifesaving, but only if initiated before the onset of neurologic symptoms. Therefore, X-ALD was added to the Recommended Uniform Screening Panel. We report outcomes of the initial screening of approximately 276,000 newborns in Illinois. The lipid C26:0 lysophosphatidylcholine (C26:0-LPC) was measured in dried blood spots (DBS) using liquid chromatography with tandem mass spectrometry. Results ≥ 0.28 µmol/L were considered screen positive. Of 18 screen positive results detected, 12 cases were confirmed. Results were reported as borderline if initial and repeat analyses were ≥0.18 and <0.28 µmol/L. Of the 73 borderline screen results, 57 were normal after analysis of a second sample. Five X-ALD cases were identified from borderline screens. Newborn screening of X-ALD was successfully implemented in Illinois, and results were comparable to reports from other states. Early identification of infants with this potentially life-threatening disorder will significantly improve outcomes for these children.https://www.mdpi.com/2409-515X/8/1/6X-linked adrenoleukodystrophyperoxisomal disordernewborn screening |
| spellingShingle | Barbara K. Burton Rachel Hickey Lauren Hitchins Vera Shively Joan Ehrhardt Laura Ashbaugh Yin Peng Khaja Basheeruddin Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience International Journal of Neonatal Screening X-linked adrenoleukodystrophy peroxisomal disorder newborn screening |
| title | Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience |
| title_full | Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience |
| title_fullStr | Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience |
| title_full_unstemmed | Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience |
| title_short | Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience |
| title_sort | newborn screening for x linked adrenoleukodystrophy the initial illinois experience |
| topic | X-linked adrenoleukodystrophy peroxisomal disorder newborn screening |
| url | https://www.mdpi.com/2409-515X/8/1/6 |
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