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. 2026 Feb 14;21(1):71.
doi: 10.1186/s13023-026-04230-8.

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  1   2   3 , Aurélia Poujois  4   5 , Nadia Belmatoug  6   5 , Olivier Lidove  7   8 , Vanessa Leguy-Seguin  9   8 , Wladimir Mauhin  7   8 , Magali Gorce  10   8 , Aline Cano  11   5 , Philippe Labrune  12   8 , Karin Mazodier  13   5 , Camille Wicker  14   8 , François Maillot  15   8 , Anaïs Brassier  16   5 , Anne-Sophie Guemann  17   5 , Dalila Habes  18   5 , Marie-Thérèse Abi-Warde  19   8 , Isabelle Redonnet-Vernhet  20   8 , Dominique P Germain  21   5 , Christian Lavigne  22   8 , Azza Khemiri  16   5 , Karine Mention  17   5 , Myriam Dao  16   23   5 , Bénédicte Héron  24   8 , Marc G Berger  8   25 , Pascale de Lonlay  16   5
Affiliations

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 et al. Orphanet J Rare Dis. .

Abstract

Background: The 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.

Results: This 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).

Conclusions: COVID-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.

Supplementary Information: The online version contains supplementary material available at 10.1186/s13023-026-04230-8.

Keywords: COVID-19; Inherited metabolic diseases; Lysosomal disorders; Metabolic decompensation; Phenylketonuria; Rare diseases; Wilson disease.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study was approved by the French Ethics Committee (Comité de Protection des Personnes Sud-Ouest et Outre-Mer 2, reference number: ID-RCB : 2020-A02886-33, approval date: 12/10/2020) and registered on ClinicalTrials.gov (NCT04645498; date of registration : 2020-11-27). All procedures conformed to the Declaration of Helsinki and French legal requirements for observational research. Data protection and confidentiality were maintained according to the standards of the French data protection authority (CNIL). Competing interests: Claire Douillard: Vitaflo, Genzyme/Sanofi ; Aurélia Poujois: Orphalan, Univar, Alexion; Nadia Belmatoug: Sanofi, Takeda ; Olivier Lidove: Travel grants and speaker honoraria from: Amicus, Chiesi, Genzyme/Sanofi. Marc G. Berger: No conflicts of interest to declare; Pascale de Lonlay: No conflicts of interest to declare; Vanessa Leguy-Seguin: Travel grants and speaker honoraria from Amicus, Takeda, Genzyme/Sanofi, Wladimir Mauhin: Travel grants and speaker honoraria from Sanofi, Amicus, Chiesi, Biomarin, Magali Gorce : No conflicts of interest to declare; Aline Cano: No conflicts of interest to declare; Philippe Labrune: No conflicts of interest to declare; Karin Mazodier: No conflicts of interest to declare; Camille Wicker: Immedica, Chiesi, Sanofi; François Maillot: No conflicts of interest to declare; Anaïs Brassier: No conflicts of interest to declare; Anne-Sophie Guemann: No conflicts of interest to declare; Dalila Habes: No conflicts of interest to declare; Marie-Thérèse Abi-Warde: No conflict of interest related to this study. Honoraria for advisory boards from Sanofi Genzyme, Zevra, Nutricia; Ttravel support from BioMarin, Sanofi Genzyme; Jazz pharmaceutical, UCB, Chiesi, Nutricia; Isabelle Redonnet-Vernhet: No conflicts of interest to declare; Dominique P. Germain: Consultant for Chiesi, Idorsia, Sanofi, Takeda; Christian Lavigne: No conflicts of interest to declare; Azza Khemiri: No conflicts of interest to declare; Karine Mention: No conflicts of interest to declare; Myriam Dao: No conflicts of interest to declare; Bénédicte Héron: No conflict of interest related to this study but received honoraria for advisory boards from Orchard Therapeutics, Takeda, Zevra; received honoraria/travel support from BioMarin, Shire/Takeda, Sanofi Genzyme; is principal investigator for Abeona, Zevra, Lysogene, Mallincrodt, Idorsia, JCR Pharmaceuticals, and Chiesi studies; expert consultant for Lysogene, Takeda and Zevra.

Figures

Fig. 1
Fig. 1
Distribution of the different IMD in Children affected by COVID-19 (n = 69). CHI: Congenital hyperinsulinism; CPS1: Carbamylphosphate Synthase 1; CPT 2: Carnitine palmitoyltransferase 2; GAL: Galactosemia; GSD: Glycogen storage disease; IVA: Isovaleric aciduria; LPI: Lysinuric Protein Intolerance; LDs: Lysosomal disorders; MITO: Mitochondrial diseases; MMA: Methylmalonic aciduria; MPS: Mucopolysaccharidoses; MTPD: Mitochondrial trifunctional protein deficiency; NPC: Niemann-Pick C disease; OTC: Ornithine Transcarbamylase; PA: Propionic aciduria; PDHD: Pyruvate dehydrogenase deficiency; PKU: Phenylketonuria; PMM2-CDG: Phosphomannomutase deficiency - Congenital disorders of glycosylation; Pompe: Pompe disease; RC: Respiratory Chain deficiency; TYR: Tyrosinemia type 1; UCD: Urea cycle disorders; Wilson: Wilson disease
Fig. 2
Fig. 2
Distribution of the different IMD in Adults affected by COVID-19 (n = 248). AIP: Acute intermittent porphyria; ASMD: Acid sphingomyelinase deficiency; CHI: Congenital hyperinsulinism; CPT 2: Carnitine palmitoyltransferase 2; FAOD: Fatty acid oxidation disorders; Fabry: Fabry disease; GAL: Galactosemia; GSD: Glycogen storage disease; Gaucher: Gaucher disease; IVA: Isovaleric aciduria; LDs: Lysosomal disorders; MADD: Multiple acyl-CoA dehydrogenase deficiency; MCAD: Medium-chain acyl-CoA dehydrogenase deficiency; MITO: Mitochondrial diseases; MMA: Methylmalonic aciduria; MPS: Mucopolysaccharidoses; MTHFR: Methylene-tetrahydrofolate reductase; MSUD: Maple syrup urine disease; NPC: Niemann-Pick C disease; PA: Propionic aciduria; PKU: Phenylketonuria; Pompe: Pompe disease; RC: Respiratory Chain deficiency; TYR: Tyrosinemia type 1; UCD: Urea cycle disorders (5 UCD including 4 OTC and 1 UCD unspecified); VLCAD: Very long-chain acyl-CoA dehydrogenase deficiency; Wilson: Wilson disease
Fig. 3
Fig. 3
Distribution of the different IMD impacted by COVID 19 in children (n = 17). CPS1: Carbamylphosphate Synthase 1; FAOD: Fatty acid oxidation disorders; GSD: Glycogen storage disease; KSS: Kearns-Sayre syndrome; LDs: Lysosomal disorders; MITO: Mitochondrial diseases; MPS: Mucopolysaccharidoses; MTPD: Mitochondrial trifunctional protein deficiency; NPC: Niemann-Pick C disease; PA: Propionic aciduria; PDHD: Pyruvate dehydrogenase; PKU: Phenylketonuria; PMM2-CDG: Phosphomannomutase deficiency - Congenital disorders of glycosylation; RC: Respiratory Chain deficiency; UCD: Urea cycle disorders
Fig. 4
Fig. 4
Distribution of the different IMD impacted by COVID 19 in adults (n = 33). ASMD: Acid sphingomyelinase deficiency; FAOD: Fatty acid oxidation disorders; Fabry: Fabry disease; GSD: Glycogen storage disease; Gaucher: Gaucher disease; KSS: Kearns-Sayre syndrome; LDs: Lysosomal disorders; MADD: Multiple acyl-CoA dehydrogenase deficiency; MELAS: Mitochondrial Encephalomyopathy Lactic Acidosis Stroke-like episodes; MITO: Mitochondrial diseases; MSUD: Maple syrup urine disease; PA: Propionic aciduria; PKU: Phenylketonuria; Pompe: Pompe disease; RC: Respiratory Chain deficiency; VLCAD: Very long-chain acyl-CoA dehydrogenase deficiency; Wilson: Wilson disease
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References

    1. Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, et al. Impact of the COVID-19 pandemic on people living with rare diseases and their families: results of a National survey. JMIR Public Health Surveill 14 févr. 2024;10:e48430. - DOI - PMC - PubMed
    1. Lampe C, Dionisi-Vici C, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M, et al. The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two metabern surveys. Orphanet J Rare Dis. 2020;15:341. - DOI - PMC - PubMed
    1. Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, et al. The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: a global perspective. Mol Genet Metab. 2020;131(3):285–8. - DOI - PMC - PubMed
    1. Altassan R, Schrier Vergano SA, Ali M, Baide-Mairena H, Baruteau J, Ciara E, et al. COVID-19 in patients with inherited metabolic disorders: insights from clinical experience and literature review. Orphanet J Rare Dis. 2021;16(1):150.
    1. Paneghetti L, Spada M, Roos B, Šubrt P, Sestini S, Scarpa M, et al. One-year impact of the COVID-19 pandemic on patients with inherited metabolic diseases: results from the metabern network. Orphanet J Rare Dis. 2022;17:68. - DOI

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