Evidence map›Paper›PMID 41689122›Full record

ArticleOrphanet journal of rare diseases2026

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Claire Douillard, Aurélia Poujois, Nadia Belmatoug, Olivier Lidove, Vanessa Leguy-Seguin, Wladimir Mauhin, Magali Gorce, Aline Cano, Philippe Labrune, Karin Mazodier and 15 more

Abstract readMulticenter Study
In one paragraph

Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

25 authors.

Claire DouillardService Endocrinologie-Diabétologie-Oncologie endocrinienne-Métabolisme, CHU Lille, Lille, France. claire.douillard@chu-lille.fr.ORCID http://orcid.org/0000-0002-5714-1600
Aurélia PoujoisDépartement de Neurologie, Centre de référence de la maladie de Wilson et autres maladies rares liées au cuivre, Hôpital Fondation Adolphe de Rothschild, Paris, France.
Nadia BelmatougService de médecine Interne, Centre de Référence des Maladies Lysosomales, Hôpitaux Universitaires Paris Nord, Beaujon, AP-HP, Clichy, France.
Olivier LidoveService de Médecine Interne, Centre de Référence des Maladies Lysosomales, Groupe Hospitalier Diaconesses Croix Saint-Simon, Paris, France.
Vanessa Leguy-SeguinService de Médecine interne et Immunologie Clinique, CHU, Dijon, France.
Wladimir MauhinService de Médecine Interne, Centre de Référence des Maladies Lysosomales, Groupe Hospitalier Diaconesses Croix Saint-Simon, Paris, France.
Magali GorceCentre de Référence des Maladies Héréditaires du Métabolisme, CHU Toulouse, Toulouse, France.
Aline CanoCentre de Référence des Maladies Héréditaires du Métabolisme- CHU La Timone Enfants, Marseille, France.
Philippe LabruneCentre de Référence des Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, APHP, Clamart, France.
Karin MazodierService de Médecine Interne, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU Conception, Marseille, France.
Camille WickerService de pédiatrie, Centre de Compétence des Maladies Héréditaires du Métabolisme, CHU Strasbourg, Strasbourg, France.
François MaillotMédecine Interne, Centre Référence Maladies Héréditaires du Métabolisme, hôpital Bretonneau, CHU, Tours, France.
Anaïs BrassierCentre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Universitaire Necker-enfants malades, AP-HP, Université Paris Cité, INSERM U1151, Institut Necker-Enfants Malades (INEM), Paris, France.
Anne-Sophie GuemannCentre de Référence des Maladies Héréditaires du Métabolisme, CHU Lille, Lille, France.
Dalila HabesService d'hépatologie pédiatrique, Hôpital Bicêtre, AP-HP, Le Kremlin- Bicêtre, France.
Marie-Thérèse Abi-WardeService de Neurologie Pédiatrique, Centre de Compétence des Maladies Héréditaires du Métabolisme, CHU Strasbourg, Strasbourg, France.
Isabelle Redonnet-VernhetService d'Endocrinologie, Maladies Métaboliques et Nutrition, Centre de Compétence des Maladies Héréditaires du Métabolisme, Service de Biochimie, CHU Bordeaux, Bordeaux, France.
Dominique P GermainService de génétique médicale, Centre de Référence pour la Maladie de Fabry et les maladies lysosomales, Hôpital Raymond Poincaré, AP-HP Paris Saclay, Garches, France.
Christian LavigneService de médecine interne et d'immunologie Clinique, CHU Angers, Angers, France.
Azza KhemiriCentre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Universitaire Necker-enfants malades, AP-HP, Université Paris Cité, INSERM U1151, Institut Necker-Enfants Malades (INEM), Paris, France.
Karine MentionCentre de Référence des Maladies Héréditaires du Métabolisme, CHU Lille, Lille, France.
Myriam DaoCentre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Universitaire Necker-enfants malades, AP-HP, Université Paris Cité, INSERM U1151, Institut Necker-Enfants Malades (INEM), Paris, France.
Bénédicte HéronService de Neuropédiatrie, Centre de Reference des Maladies Lysosomales, CH Armand Trousseau-La Roche Guyon, AP-HP, FHU I2-D2, Paris, France.
Marc G Berger, Filière G2m, Paris, France.
Pascale de LonlayCentre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Universitaire Necker-enfants malades, AP-HP, Université Paris Cité, INSERM U1151, Institut Necker-Enfants Malades (INEM), Paris, France.

Funding

Ministère des Affaires Sociales et de la Santé This work was supported by the General Directorate for Healthcare Services (DGOS) of the Ministry of Health through the national rare diseases plan
6 · The paper itself

Abstract

backgroundThe COVID-19 pandemic presented unique challenges for patients with inherited metabolic diseases (IMDs), particularly due to the risk of infection-related metabolic decompensation and disruptions to specialized care. We aimed to assess the impact of COVID-19 infection on the clinical course of patients with IMDs in a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

resultsThis national French study included 317 IMD patients (69 children and 248 adults) with symptomatic or asymptomatic COVID-19 infection between January 2020 and January 2023. Most COVID-19 cases were mild to moderate. The frequency of symptomatic COVID-19 was similar in adults and children (234/248 [94.3%] vs. 56/64 [87.5%], p = 0.09). Children experienced more frequently metabolic destabilization than adults during a COVID-19 infection (17/67 [25.4%] vs. 33/248 [13.3%], p = 0.03). Moreover, the proportion of children admitted to the ICU was higher than that of adult patients (5/69 [7.2%] vs. 4/248 [1.6%], p = 0.04). Temporary suspension or delay of IMD-specific treatment due to COVID-19 was rare, affecting 3/64 (4.7%) children and 13/229 (5.7%) adults. Severe COVID-19 outcomes were uncommon, with only one death in the adult cohort and five cases of long-term sequelae (1 child, 4 adults).

conclusionsCOVID-19 was generally mild to moderate in IMD patients and caused metabolic decompensation or imbalance in a minority of cases, with only rare interruptions to disease-specific treatment. We observed that COVID-19 more frequently worsened the condition of children with IMD compared to adults in our cohort of patients.

Indexed as

COVID-19Metabolism, Inborn ErrorsRare DiseasesAdolescentAdultAgedChildChild, PreschoolFemaleFranceHumansInfantMaleMiddle AgedSARS-CoV-2Young AdultCOVID-19Inherited metabolic diseasesLysosomal disordersMetabolic decompensationPhenylketonuriaRare diseasesWilson disease

Identifiers

PMID41689122
PMCPMC12922317

What OpenQuestion holds

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LicenceCC BY
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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.