Abstract
Background. Patients with inborn errors of metabolism (IEM) pose specific management challenges, considering their multisystem involvement. Among them, children and adults with organic acidemias (OA) and other disorders of the amino acid metabolism have a high risk for severe metabolic events that need to be recognized and promptly treated, and therefore require frequent clinical and biochemical evaluations. The novel highly pathogenic SARS-CoV2 virus appeared in Europe in the first trimester of 2020. This pandemic has a huge impact on the health care systems all over the world, interrupting the follow-up of many chronic diseases. For metabolic patients, travel to reference units may be reduced due to mobility restrictions but more importantly, attendance to medical facilities can be a risk of infection that can be a danger in itself but also trigger a metabolic decompensation.Methods. During the first coronavirus disease (COVID-19) outbreak in Spain from March to June 2020, we designed a model of remote monitoring of our patients with amino acid disorders using telephone and/or online clinical assessments and using filter paper samples to continue the biochemical control. Results. Fourteen patients with inborn errors of amino acid metabolism other than PKU received filter papers and instructions to collect blood and urine samples home and send them to our reference laboratory. Conclusions. Considering the COVID19 pandemic evolution, new strategies to ensure IEM patients have an evaluation continuity need to be implemented. We believe that blood and urine filter paper biochemical follow-up, together with online or telephone clinical assessments, can help minimize the need for in-hospital visits.
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
