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

被引：11

作者：

Caciotti, Anna ^{[1
]}

Procopio, Elena ^{[2
]}

Pochiero, Francesca ^{[2
]}

Falliano, Silvia ^{[1
]}

Indolfi, Giuseppe ^{[3
]}

Donati, Maria Alice ^{[2
]}

Ferri, Lorenzo ^{[1
]}

Guerrini, Renzo ^{[1
,4
]}

Morrone, Amelia ^{[1
,4
]}

机构：

[1] A Meyer Childrens Hosp, Neurosci Dept, Paediat Neurol Unit & Labs, Mol & Cell Biol Lab, Viale Pieraccini 24, I-50139 Florence, Italy

[2] A Meyer Childrens Hosp, Metab & Muscular Unit, Florence, Italy

[3] Meyer Childrens Univ Hosp, Paediat & Liver Unit, Florence, Italy

[4] Univ Florence, Dept Neurosci Psychol Pharmacol & Child Hlth, Florence, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2020年 / 15卷 / 01期

关键词：

Propionic academia; SARS-CoV-2; COVID-19; PCCB; MANAGEMENT; COVID-19; DISEASE;

D O I：

10.1186/s13023-020-01563-w

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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.

引用

页数：5

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