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

Orphanet Journal of Rare Diseases

Francesca Pochiero¹  Elena Procopio¹  Maria Alice Donati¹  Silvia Falliano²  Anna Caciotti²  Lorenzo Ferri²  Renzo Guerrini³  Amelia Morrone³  Giuseppe Indolfi⁴ 

[1] Metabolic and Muscular Unit, A. Meyer Children’s Hospital, Florence, Italy;Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy;Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy;Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy;Paediatric and Liver Unit, Meyer Children’s University Hospital, Florence, Italy;

关键词: Propionic academia;    SARS-CoV-2;    COVID-19;    PCCB;   

DOI  :  10.1186/s13023-020-01563-w

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY