Vitturi N, Lenzini L, Francini-Pesenti F, Gugelmo G, Avogaro A
University of Padova, Department of Medicine-DIMED, Division of Metabolic Diseases, University Hospital, Padova, Italy.
University of Padova, Department of Medicine-DIMED, Emergency and Hypertension Unit, University Hospital, Padova, Italy.
Mol Genet Metab Rep. 2020 Dec 11;26:100698. doi: 10.1016/j.ymgmr.2020.100698. eCollection 2021 Mar.
We describe a case of a 21 years old woman affected by Citrullinemia type 1- Arginosuccinate Synthase deficiency (ASSD)-who underwent a SARS CoV2 infection during the first phase of pandemic burst in Italy. She had no symptoms of infection nor a metabolic crisis. After recovery from SARS CoV2, she experienced a worsening in their epilepsy despite therapy, with one/two crisis a week.
我们描述了一例1型瓜氨酸血症——精氨琥珀酸合成酶缺乏症（ASSD）的21岁女性病例，她在意大利疫情爆发的第一阶段感染了新冠病毒。她没有感染症状，也没有代谢危机。从新冠病毒感染中康复后，尽管接受了治疗，她的癫痫病情仍恶化，每周发作一/两次。
