ArticleThe Journal of pediatrics2013
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.
Article in The Journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
92 citing papers in PubMed, 1 synthesis or guideline pooled it, 159 citations in OpenAlex.
- Fabry disease in infancy and early childhood: a systematic literature review.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Pooled it
- Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.Journal of human genetics · 2018Trial
- Newborn screening for Fabry disease in the north-west of Spain.European journal of pediatrics · 2017Trial
- Structural dynamics and stability analysis of a novel ARSK variant confirms its role in MPS type X pathogenesis.Glycoconjugate journal · 2026Article
- ReclassifyingInternational journal of neonatal screening · 2025Article
- Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH).BMC nephrology · 2025Article
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).Orphanet journal of rare diseases · 2024Review
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.Frontiers in pediatrics · 2024Article
- A novel doubleMolecular genetics and metabolism reports · 2023Article
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots.Molecular genetics and metabolism reports · 2022Article
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Platelet and myeloid cell phenotypes in a rat model of Fabry disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.Biomolecules · 2021Article
- Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities.Orphanet journal of rare diseases · 2021Article
- Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future.Journal of clinical medicine · 2021Review
- Health and economic outcomes of newborn screening for infantile-onset Pompe disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo assess the performance of a tandem mass spectrometry (MS/MS) technology in a newborn screening laboratory to simultaneously measure α-galactosidase, acid-α-glucosidase, and α-L-iduronidase for the detection of infants at risk to develop Fabry, Pompe, or mucopolysaccharidosis (MPS)-I diseases. STUDY
designEnzyme activity was assayed from a 3.2-mm punch from 100,000+ anonymous newborn blood spots. Punches with low enzyme activity were further evaluated by nucleotide sequence analysis of the responsible gene. Confirmation of affected infants was dependent on identification of mutations compatible with diminished enzyme activity.
resultsThe technology for simultaneously measuring multiple enzyme activities by MS/MS was successful. The confirmation of diagnosis for Fabry, Pompe, or MPS-I, by DNA sequencing estimated the prevalence of Fabry disease at 1/7800 males (95% CI 1/17,800-1/3600); Pompe disease at 1/27,800 newborns (95% CI 1/90,000-1/10,200); and MPS-I at 1/35,500 newborns (95% CI 1/143,000-1/11,100). These estimates of prevalence are 2 to 4 times greater than the prevalence estimated by clinical diagnosis. The combined prevalence for the 3 disorders was 1/7500 newborns (95% CI 1/13,500-1/4500).
conclusionsMS/MS for the simultaneous assay of multiple lysosomal enzymes can be successfully introduced into a routine newborn screening laboratory. The technology has a positive predictive value equal to, or better, than methods currently used for the detection of nonlysosomal disorders. Using newborn blood spots, the combined prevalence of Fabry, Pompe, and MPS-I is estimated at 1/7500 newborns based on low-enzyme activity and confirmation by mutation analysis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.