Evidence map›Paper›PMID 27331002›Full record

ArticleMolecular genetics and metabolism reports2016

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff

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

Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
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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

10 authors at 4 institutions in 1 country.

Carole HarbulotChild Neurology, Hôpital Robert Debré, APHP, Paris, France.
Stéphanie PaquayChild Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
Imen DorbozInserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.
Samia PichardChild Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
Agnès BourillonBiochemistry, Hôpital Robert Debré, APHP, Paris, France.
Jean-François BenoistBiochemistry, Hôpital Robert Debré, APHP, Paris, France.
Claude JardelBiochemistry, Hôpital de la Salpêtrière, APHP, Paris, France.
Hélène Ogier de BaulnyChild Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
Odile Boespflug-TanguyChild Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.
Manuel SchiffChild Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.
Hôpital Robert-Debré · FRAssistance Publique – Hôpitaux de Paris · FRSorbonne Paris Cité · FRPitié-Salpêtrière Hospital · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1.

objectivesTo report transient neonatal renal findings in MEGDEL syndrome.

resultsThis 7 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration with severe lactic acidosis and liver failure. Initial evaluation revealed massive polyuria and renal failure with 3-methylglutaconic aciduria. Symptoms and biological findings progressively improved with symptomatic treatment but lactic acidosis and high lactate to pyruvate ratio along with 3-methylglutaconic aciduria persisted. At 8 months of age, a subacute neurological degradation occurred with severe hypotonia, dystonia with extrapyramidal movements and failure to thrive. Brain MRI revealed basal ganglia lesions suggestive of Leigh syndrome. At 3 years of age, sensorineural deafness was documented. MEGDEL syndrome was further confirmed by the identification of an already reported homozygous mutation in SERAC1.

conclusionTransient neonatal polyuria and renal failure have not been reported to date in SERAC1 defective patients. Such neonatal kidney findings expand the clinical spectrum of MEGDEL syndrome.

Indexed as

KidneyMEGDELMitochondrial diseaseSERAC1

Identifiers

PMID27331002
PMCPMC4908062
OpenAlexW2295785242

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.