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

Anna Caciotti,Amelia Morrone,Giuseppe Indolfi,Renzo Guerrini,Elena Procopio,Maria Alice Donati,Lorenzo Ferri,Francesca Pochiero,Silvia Falliano

doi:10.1186/s13023-020-01563-w

Anna Caciotti, Amelia Morrone + Show 7 more

Open Access

https://doi.org/10.1186/s13023-020-01563-w

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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.

Highlights

Propionic acidemia (PA) (MIM #606054) is a multisystemic inborn error of the catabolic pathway of branchedchain amino acids
We describe a 14-month-old patient followed by our team since PA was detected by newborn screening (NBS) and confirmed by PCCAand PCCB gene sequencing, who was recently infected by SARS-CoV-2
Systemic reviews of COVID-19 in pediatric patients suggests that the clinical course of SARS CoV-2 infection in children is milder than in adults [12, 19, 20]

Summary

Introduction

Propionic acidemia (PA) (MIM #606054) is a multisystemic inborn error of the catabolic pathway of branchedchain amino acids (isoleucine, valine, methionine and threonine). We describe a 14-month-old patient followed by our team since PA was detected by NBS and confirmed by PCCAand PCCB gene sequencing, who was recently infected by SARS-CoV-2. At the last follow-up appointment, therapy included l-Carnitine, N-carbamylglutamate (80 mg/kg), Vitamin complex [Vitamin C, E, A, D3, B12 and folic acid], 12.5 mg/kg Metronidazole in 2 doses for 15 days per month (Table 1).

Results

Conclusion