A team of scientists conducted a study into the number of COVID-19 infection cases and the severity of symptoms among affected patients with inherited metabolic disorders and determined the need for special attention in this population, as published in the Oprhanet Journal of Rare Diseases.

The COVID-19 pandemic that started at the end of 2019 has resulted in a global pandemic that has upended millions of lives. At the time of publication, multiple variants of the disease continue to wreak havoc on communities worldwide. 

The researchers of this study wanted to focus on a particular aspect of the COVID-19 pandemic: its impact among patients with inherited metabolic disorders including Pompe disease, long chain fatty acid oxidation disorder, and lysosomal acid lipase deficiency. To conduct their study, they designed a survey that was completed by 60 metabolic experts and 26,347 patients with inherited metabolic disorders across Europe.

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Among the respondents, 452 cases of COVID-19 were reported. The results of the survey demonstrated that 34% of respondents said that their patients were asymptomatic in 75% to 100% of cases and that the number of severe COVID-19 cases was negligible. Most pediatric cases of COVID-19 were likewise asymptomatic or reported only mild symptoms during the disease.

The survey also found that 97% of healthcare professionals reported no fatalities among their patients affected with COVID-19, with only 3% reporting deaths in 1% to 25% of infected patients. Among the patients who died from the disease, most carers reported that their deaths were directly due to the viral infection, with only some saying that the worsening of their chronic conditions was involved.

“There is still a lot unknown about the long-term effects of COVID-19 in the general population and especially in metabolic patients. These survey results warrant further research into the impact of COVID-19 on the [inherited metabolic disorders] population,” the researchers concluded.


Paneghetti L, Bellettato CM, Sechi A, Stepien KM, Scarpa M. One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN. Orphanet J Rare Dis. 2022;17(1):109. doi:10.1186/s13023-022-02247-3