COVID-19 Impact on Inherited Metabolic Disorders
Summary
The emergence of COVID-19 posed unique challenges for individuals with inherited metabolic disorders (IMDs), a heterogeneous group of genetic conditions characterised by enzyme or cofactor deficiencies that compromise metabolic homeostasis. Patients with these disorders faced heightened risk of metabolic decompensation triggered by febrile illness, as well as logistical barriers to receiving life-long therapies and routine monitoring. Early in the pandemic, surveys conducted across European reference networks revealed extensive disruption of in-person clinical services, with many scheduled appointments and hospital-based treatments postponed or cancelled. In response, centres rapidly scaled up telemedicine to provide remote consultations and support, while some patients transitioned from hospital infusions to home-based therapies. Epidemiological data collected over the first year of the pandemic indicated that, although the overall incidence of SARS-CoV-2 infection in the IMD population was lower than in general cohorts, severe outcomes did occur, including occasional fatalities in high-risk subgroups. Furthermore, diagnostic pathways for new cases of inborn errors of metabolism were substantially impacted, with diagnostic testing volumes falling sharply in many regions and leading to underdiagnosis of treatable conditions. Collectively, these findings highlight the importance of adaptive care models, integration of remote healthcare delivery, and safeguarding diagnostic services to maintain continuity of care and mitigate long-term morbidity in this vulnerable population.
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COVID-19 Impact on Inherited Metabolic Disorders publication trend
The graph below shows the total number of articles in covid-19 impact on inherited metabolic disorders across all publications each year (not limited to Nature Index journals).
Technical terms
Inborn Errors of Metabolism (IEM): Genetic disorders caused by defects in metabolic enzymes or cofactors leading to substrate accumulation or energy deficits.
Lysosomal Storage Disorders (LSD): A subgroup of IEMs characterised by deficiencies in lysosomal enzymes, resulting in progressive substrate accumulation within cells.
Telemedicine: The remote delivery of healthcare services via telecommunications, including video consultations and electronic monitoring.
Metabolic Decompensation: An acute deterioration in metabolic control, often precipitated by infection or stress, leading to life-threatening biochemical imbalances.
References
- The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet Journal of Rare Diseases (2020).
- One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN. Orphanet Journal of Rare Diseases (2022).
- COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil. Genetics and Molecular Biology (2022).
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