Molecular Genetics and Metabolism Reports (Mar 2021)
SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening
Abstract
Summary: 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.