ArticleMolecular genetics and metabolism2019
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
Article in Molecular genetics and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.Journal of inherited metabolic disease · 2026Review
- An Australian standard of care for Niemann-Pick disease type C.Internal medicine journal · 2026Article
- Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.Lipids in health and disease · 2025Review
- Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1.Genetics in medicine open · 2025Article
- Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells.Metabolites · 2024Article
- Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.Antioxidants (Basel, Switzerland) · 2024Article
- ScreenPlus: A comprehensive, multi-disorder newborn screening program.Molecular genetics and metabolism reports · 2024Article
- Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.Molecular genetics and metabolism · 2023Article
- Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models.International journal of molecular sciences · 2023Article
- Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.Biomarker research · 2023Article
- Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.International journal of neonatal screening · 2022Review
- Advancing Diagnosis and Treatment of Niemann-Pick C disease through Biomarker Discovery.Exploration of neuroprotective therapy · 2021Article
- Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.Molecular genetics and metabolism · 2020Article
- Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.International journal of molecular sciences · 2020Review
- Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.Metabolic brain disease · 2019Review
- Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.Case reports in genetics · 2019Article
- Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.Journal of developmental and behavioral pediatrics : JDBPArticle
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8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundNiemann-Pick disease type C1 (NPC1) is a rare, neurodegenerative cholesterol storage disorder. Diagnostic delay of >5 years is common due to the rarity of the disease and non-specific early symptoms. To improve diagnosis and facilitate early intervention, we previously developed a newborn screening assay based on newly identified plasma bile acid biomarkers. Because the newborn screen had been validated using dried blood spots (DBS) from already diagnosed NPC1 patients, an unanswered question was whether the screen would be able to detect individuals with NPC1 at birth.
methodsTo address this critical question, we obtained the newborn DBS for already diagnosed NPC1 subjects (n = 15) and carriers (n = 3) residing in California, New York, and Michigan states that archive residual DBS in biorepositories. For each of the DBS, we obtained two neighbor controls - DBS from patients born on the same day and in the same hospital as the NPC1 patients and carriers. 3β,5α,6β-trihydroxycholanic acid (bile acid A) and trihydroxycholanic acid glycine conjugate (bile acid B) were measured in the DBS using a liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay.
resultsBile acid B, the more specific biomarker for which the fully validated DBS assay was developed, was detected in 8/15 NPC1 patients, and elevated above the cut-off in 2/15 patients (the two samples with the shortest storage time). Bile acid B was detected in 2/2, 6/10, and 0/7 NPC1 samples that have been stored for <10.5 years, 13-20 years, and > 20 years, respectively, indicating that the glycine conjugate is detectable in DBS but may have reduced long-term stability compared with bile acid A, the precursor trihydroxycholanic acid, which was elevated in 15/15 NPC1 subjects, but not in carriers and controls.
conclusionsThese results demonstrate that newborn screening for NPC1 disease is feasible using bile acid biomarkers.
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