We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn error of metabolism. Although propionic acidemia patients are at a high risk of suffering metabolic crises, frequently associated with permanent clinical complications, psychomotor development of this patient was normal. The SARS-CoV-2 infection (at about 1 year of age) caused the patient’s first metabolic crisis. However, his clinical course was in keeping with a mild clinical form of COVID-19, and he recovered without experiencing severe clinical consequences. We describe this patient in order to improve the knowledge about follow up of PA patients identified by newborn screening and to increase the limited number of reports of SARS-CoV-2 infection in children with comorbidities, especially inborn errors of metabolism.

SARS-CoV-2 infection in a patient with propionic acidemia / Caciotti A.; Procopio E.; Pochiero F.; Falliano S.; Indolfi G.; Donati M.A.; Ferri L.; Guerrini R.; Morrone A.. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - ELETTRONICO. - 15:(2020), pp. 306-311. [10.1186/s13023-020-01563-w]

SARS-CoV-2 infection in a patient with propionic acidemia

Procopio E.;Indolfi G.;Guerrini R.;Morrone A.
2020

Abstract

We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn error of metabolism. Although propionic acidemia patients are at a high risk of suffering metabolic crises, frequently associated with permanent clinical complications, psychomotor development of this patient was normal. The SARS-CoV-2 infection (at about 1 year of age) caused the patient’s first metabolic crisis. However, his clinical course was in keeping with a mild clinical form of COVID-19, and he recovered without experiencing severe clinical consequences. We describe this patient in order to improve the knowledge about follow up of PA patients identified by newborn screening and to increase the limited number of reports of SARS-CoV-2 infection in children with comorbidities, especially inborn errors of metabolism.
2020
15
306
311
Goal 4: Quality education
Caciotti A.; Procopio E.; Pochiero F.; Falliano S.; Indolfi G.; Donati M.A.; Ferri L.; Guerrini R.; Morrone A.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1215356
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