Evidence map›Paper›PMID 38044746›Full record

ArticleJournal of inherited metabolic disease2024

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Sonam Gurung, Saketh Karamched, Dany Perocheau, Kiran K Seunarine, Tom Baldwin, Haya Alrashidi, Loukia Touramanidou, Claire Duff, Nour Elkhateeb, Karolina M Stepien and 31 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.5field-weighted citation impact, top 17% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. RNA-Based Therapies for Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026
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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

41 authors at 8 institutions in 3 countries.

Sonam GurungGreat Ormond Street Institute of Child Health, University College London, London, UK.
Saketh KaramchedCentre for Advanced Biomedical Imaging, University College London, London, UK.
Dany PerocheauGreat Ormond Street Institute of Child Health, University College London, London, UK.
Kiran K SeunarineGreat Ormond Street Institute of Child Health, University College London, London, UK.
Tom BaldwinGreat Ormond Street Institute of Child Health, University College London, London, UK.
Haya AlrashidiGreat Ormond Street Institute of Child Health, University College London, London, UK.
Loukia TouramanidouGreat Ormond Street Institute of Child Health, University College London, London, UK.
Claire DuffGreat Ormond Street Institute of Child Health, University College London, London, UK.
Nour ElkhateebGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Karolina M StepienMark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK.
Reena SharmaMark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK.
Andrew MorrisWillink Unit, Manchester Centre for Genomic Medicine, Manchester, UK.
Thomas HartleyWillink Unit, Manchester Centre for Genomic Medicine, Manchester, UK.
Laura CrowtherWillink Unit, Manchester Centre for Genomic Medicine, Manchester, UK.
Stephanie GrunewaldGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Maureen ClearyGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Helen MundyEvelina London Children's Hospital, St Thomas's Hospital, London, UK.
Anupam ChakrapaniGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Spyros BatziosGreat Ormond Street Hospital for Children NHS Trust, London, UK.
James DavisonGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Emma FootittGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Karin TuschlGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Robin LachmannCharles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Elaine MurphyCharles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Saikat SantraClinical IMD, Birmingham Children's Hospital, Birmingham, UK.
Mari-Liis UudeleppGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Mildrid YeoGreat Ormond Street Hospital for Children NHS Trust, London, UK.
Patrick F FinnModerna, Inc., Cambridge, Massachusetts, USA.
Alex CavedonModerna, Inc., Cambridge, Massachusetts, USA.
Summar SiddiquiModerna, Inc., Cambridge, Massachusetts, USA.
Lisa RiceModerna, Inc., Cambridge, Massachusetts, USA.
Paolo G V MartiniModerna, Inc., Cambridge, Massachusetts, USA.
Andrea FrassettoModerna, Inc., Cambridge, Massachusetts, USA.
Simon HealesGreat Ormond Street Institute of Child Health, University College London, London, UK.
Philippa B MillsGreat Ormond Street Institute of Child Health, University College London, London, UK.
Paul GissenGreat Ormond Street Institute of Child Health, University College London, London, UK.
Jonathan D ClaydenGreat Ormond Street Institute of Child Health, University College London, London, UK.
Christopher A ClarkGreat Ormond Street Institute of Child Health, University College London, London, UK.
Simon EatonGreat Ormond Street Institute of Child Health, University College London, London, UK.
Tammy L KalberCentre for Advanced Biomedical Imaging, University College London, London, UK.
Julien BaruteauGreat Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0003-0582-540X
Great Ormond Street Hospital · GBModerna Therapeutics (United States) · USManchester Academic Health Science Centre · GBAdvanced Imaging Research (United States) · USNational Hospital for Neurology and Neurosurgery · GBSalford Royal NHS Foundation Trust · GBBirmingham Children's Hospital · GBEvelina London Children's Healthcare · GB

Funding

Medical Research Council MR/V006754/1Moderna TherapeuticsNIHR Great Ormond Street Hospital Biomedical Research CentreUnited Kingdom Medical Research Council Clinician Scientist Fellowship MR/T008024/1
6 · The paper itself

Abstract

Argininosuccinate lyase (ASL) is integral to the urea cycle detoxifying neurotoxic ammonia and the nitric oxide (NO) biosynthesis cycle. Inherited ASL deficiency causes argininosuccinic aciduria (ASA), a rare disease with hyperammonemia and NO deficiency. Patients present with developmental delay, epilepsy and movement disorder, associated with NO-mediated downregulation of central catecholamine biosynthesis. A neurodegenerative phenotype has been proposed in ASA. To better characterise this neurodegenerative phenotype in ASA, we conducted a retrospective study in six paediatric and adult metabolic centres in the UK in 2022. We identified 60 patients and specifically looked for neurodegeneration-related symptoms: movement disorder such as ataxia, tremor and dystonia, hypotonia/fatigue and abnormal behaviour. We analysed neuroimaging with diffusion tensor imaging (DTI) magnetic resonance imaging (MRI) in an individual with ASA with movement disorders. We assessed conventional and DTI MRI alongside single photon emission computer tomography (SPECT) with dopamine analogue radionuclide

Indexed as

Argininosuccinic AciduriaMovement DisordersNeuroimagingAdolescentAdultAnimalsArgininosuccinate LyaseChildChild, PreschoolDiffusion Tensor ImagingFemaleHumansIncidenceInfantMaleMiceArgininosuccinate Lyase123I‐ioflupaneammoniaargininosuccinate lyaseargininosuccinic aciduriadopaminemovement disordernitric oxidepositron emission tomographyurea cycle

Identifiers

PMID38044746
PMCPMC11586606
OpenAlexW4389308276

What OpenQuestion holds

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Registered trials

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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.