ArticleClinical chemistry2004
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
Article in Clinical chemistry, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 4 of them syntheses that pooled it.
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Who cites it
120 citing papers in PubMed, 4 syntheses or guidelines pooled it, 332 citations in OpenAlex.
- Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.Turkish journal of medical sciences · 2025Pooled it
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.Expert review of molecular diagnostics · 2018Pooled it
- Pompe disease diagnosis and management guideline.Genetics in medicine : official journal of the American College of Medical Genetics · 2006Guideline
- Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.The Journal of pediatrics · 2006Trial
- Review
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.Diseases (Basel, Switzerland) · 2025Article
- Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.International journal of neonatal screening · 2024Article
- How mass spectrometry revolutionized newborn screening.Journal of mass spectrometry and advances in the clinical lab · 2024Review
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.International journal of neonatal screening · 2023Article
- Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.International journal of molecular sciences · 2023Article
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.Metabolomics : Official journal of the Metabolomic Society · 2023Article
- An Overview of Molecular Mechanisms in Fabry Disease.Biomolecules · 2022Review
- Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.Molecular genetics and metabolism reports · 2022Article
- Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.Brain : a journal of neurology · 2022Article
- Current methods to analyze lysosome morphology, positioning, motility and function.Traffic (Copenhagen, Denmark) · 2022Review
- Multiplex Lysosomal Enzyme Activity Assay on Dried Blood Spots Using Tandem Mass Spectrometry.Methods in molecular biology (Clifton, N.J.) · 2022Article
- The future of newborn screening for lysosomal disorders.Neuroscience letters · 2021Article
60 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundNewborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann-Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme source.
methodsWe used a cassette of substrates and internal standards to directly quantify the enzymatic activities, and tandem mass spectrometry for enzymatic product detection. Rehydrated dried blood spots were incubated with the enzyme substrates. We used liquid-liquid extraction followed by solid-phase extraction with silica gel to remove buffer components. Acarbose served as inhibitor of an interfering acid alpha-glucosidase present in neutrophils, which allowed the lysosomal enzyme implicated in Pompe disease to be selectively analyzed.
resultsWe analyzed dried blood spots from 5 patients with Gaucher, 5 with Niemann-Pick A/B, 11 with Pompe, 5 with Fabry, and 12 with Krabbe disease, and in all cases the enzyme activities were below the minimum activities measured in a collection of heterozygous carriers and healthy noncarrier individuals. The enzyme activities measured in 5-9 heterozygous carriers were approximately one-half those measured with 15-32 healthy individuals, but there was partial overlap of each condition between the data sets for carriers and healthy individuals.
conclusionFor all five diseases, the affected individuals were detected. The assay can be readily automated, and the anticipated reagent and supply costs are well within the budget limits of newborn-screening centers.
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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.