Evidence map›Paper›PMID 34258226›Full record

ArticleMolecular genetics and metabolism reports2021

The fate of orally administered sialic acid: First insights from patients with

Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J Lefeber, Ivan Ivanovski and 4 more

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.1field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 15 citations in OpenAlex.

  1. Review
  2. Article
  3. Simultaneous ManNAc and Neu5Ac Quantification in Human Sera by LC-MS/MS.International journal of molecular sciences · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Recent advances onSynthetic and systems biotechnology · 2023
    Review
  8. Article
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 7 institutions in 3 countries.

Christel TranCenter for Molecular Diseases, Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Switzerland.
Licia TurollaMedical Genetics Unit, Azienda ULSS 2, Treviso, Italy.
Diana BallhausenPediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland.
Sandrine Cornaz BurosDepartment of Paediatrics, Neuropediatrics, Bern University Hospital, Switzerland.
Tony TeavMetabolomics Platform, Faculty of Biology and Medicine, University of Lausanne, Switzerland.
Hector Gallart-AyalaMetabolomics Platform, Faculty of Biology and Medicine, University of Lausanne, Switzerland.
Julijana IvanisevicMetabolomics Platform, Faculty of Biology and Medicine, University of Lausanne, Switzerland.
Mohamed FaouziDivision of Biostatistics, Center for Primary Care and Public Health (Unisanté), University of Lausanne, Switzerland.
Dirk J LefeberTranslational Metabolic Laboratory, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
Ivan IvanovskiMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Sara GiangiobbeMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Stefano Giuseppe CaraffiMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Livia GaravelliMedical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Andrea Superti-FurgaCenter for Molecular Diseases, Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Switzerland.
University of Lausanne · CHIstituti di Ricovero e Cura a Carattere Scientifico · ITAzienda Sanitaria Unità Locale di Reggio Emilia · ITAzienda ULSS 9 TREVISO · ITRadboud University Medical Center · NLUniversity Hospital of Lausanne · CHUniversity of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn NANS deficiency, biallelic mutations in the

methodsFour adults and two children with NANS deficiency and four adult controls received oral NeuNAc acid (150 mg/kg/d) over three days. Total NeuNAc, free NeuNAc and ManNAc were analyzed in plasma and urine at different time points.

resultsUpon NeuNAc administration, plasma free NeuNAc increased within hours ( DISCUSSION: Orally administered free NeuNAc was rapidly absorbed but also rapidly excreted in the urine. It did not change ManNAc levels in either patients or controls, indicating that it may not achieve enough feedback inhibition to reduce ManNAc accumulation in NANS-deficient subjects. Within the limitations of this study these results do not support a potential for oral free NeuNAc in the treatment of NANS deficiency but they provide a basis for further therapeutic approaches in this condition.

Indexed as

Brain gangliosidesDevelopmental delayNANS deficiencyNutrition therapySialic acid

Identifiers

PMID34258226
PMCPMC8251509
OpenAlexW3177126906

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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.