Newborn screening for lysosomal storage disorders and other neuronopathic conditions
Open accessAbstract
Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high‐throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X‐adrenoleukodystrophy, Wilson disease, and Friedreich ataxia. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;17:247–253.
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Determination of C26:0 lysophosphatidylcholine (C26:0-LPC) from dried blood spots has turned out to be most promising for high-throughput biochemical screening for X-ALD and other metabolic disorders.
“Determination of C26:0 lysophosphatidylcholine (C26:0-LPC) from dried blood spots has turned out to be most promising and slightly different methods based on tandem mass spectrometry (MS/MS) were reported by different laboratories.68–71”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [68]
The NBS for X-adrenoleukodystrophy section says C26:0-LPC can be elevated in dried blood spots from patients with X-ALD or Zellweger spectrum disorders, and that an improved LC-MS/MS assay is fast enough for high-throughput testing. It does not establish that the method has proved the most promising: the assay was still under pilot review, with test-performance data not yet reported. (LLM, conf=0.82)
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- Authors
- Matern, D., Oglesbee, D., & Tortorelli, S.
- Affiliations
- Mayo Clinic (US)
- Corresponding author
- Matern, Dietrich
- Venue
- Developmental Disabilities Research Reviews
- Publisher
- Wiley
- Published
- 2013-06
- Volume
- 17
- Issue
- 3
- Pages
- 247-253
- ISSN
- 1940-5510 (ISSN-L)
- 1940-5529
- PMC
- PMC3902890
- OpenAlex
- W1499259482
- Cited by
- 41
- References
- 6
- Citations by year
- 2023: 2 · 2022: 3 · 2021: 2 · 2020: 2 · 2019: 3 · 2018: 3 · 2017: 5 · 2016: 2 · 2015: 16 · 2014: 2 · 2013: 1
- FWCI
- 0.69
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Developmental Disabilities Research Reviews (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HHSN275200800001C, HHSN275201000017C, HHSN275200800001I)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- newborn screening, lysosomal storage disease, Wilson's disease, Friedreich's ataxia, presymptomatic diagnosis, screening test performance
- MeSH terms
- Friedreich Ataxia, Hepatolenticular Degeneration, Humans, Infant, Newborn, United States, Neonatal Screening, Peroxisomal Disorders, Lysosomal Storage Diseases, Nervous System, Early Diagnosis
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