SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening

El impacto de la pandemia del virus SARS-CoV-2 ha generado un cambio en la atención médica de diversas enfermedades en muchos centros de salud. Los errores innatos del metabolismo (EIM) constituyen enfermedades genéticas que implican un compromiso crónico, con necesidad de seguimientos continuos y aplicación de tratamientos de alta complejidad. Además, se ha sugerido que estas patologías podrían constituir un factor de riesgo para el desarrollo de complicaciones ante la infección por SARS-CoV-2. Con el propósito de identificar cómo la pandemia ha afectado a la población con EIM, se analizaron 17 artículos en donde se evidencian los efectos que ha generado este virus en la salud, el tratamiento, la atención médica y el estilo de vida de pacientes con EIM. Los resultados aportan una visión del conocimiento de la situación de este grupo de pacientes observando que, contrario a lo esperado, hay una perspectiva positiva en términos del comportamiento de las enfermedades en poblaciones con EIM, aunque se evidenciaron algunos inconvenientes en la atención médica. Se resalta la importancia de analizar y divulgar la evidencia disponible para aportar información que contribuya al mejoramiento de la atención y asesoría de pacientes atendiendo a realidades y necesidades específicas.

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Efectos de la pandemia del SARS-CoV-2 en pacientes con errores innatos del metabolismo. Revisión de la literatura.

Ricketts

Mora

Díaz

et al. 2022

Univ. Med.

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Lifestyle, Nutritional and Psychological Changes in Adult Patients with Inborn Errors of Metabolism during COVID 19 Pandemic: Results from an Online Survey

Gugelmo¹,

S²,

Lovato³

et al. 2021

J Biomed Res Environ Sci

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When COVID-19 pandemic out broke in Italy, during the lockdown from March to May 2020, Inborn Errors of Metabolism (IEM) patients were at risk of not getting their dietary special products and routine visits. Moreover, during pandemic, psychological difficulties might have arose in these subjects, even more severe than in the general population due to the worries about acute decompensation caused by a possible COVID-19. In order to evaluate the patients’ perception of the outbreak situation and their related needs, three simple online anonymous surveys drawn up by Google Forms were sent to patients and families referring to our Adult IEM Center. Answers were collected between April and May 2020. Questionnaires investigated nutritional and lifestyle changes and psychological status using validated psychological tools. 19 patients with IEM filled out our survey (Median age 26-30 years). The most common nutritional therapy was low protein diet. During quarantine 12% patients failed to follow their usual medical diet, 65% reduced their physical activity and no one underwent an acute metabolic crisis. 57% of patients asked for more frequent access to the reference center. 33% of patients showed stress perceived of clinical relevance and general health perception were out of normal in 40% of patients. In conclusion, during quarantine some patients reported difficulty in following their medical diet or physical activity and were clinically stressed. Despite this, no one experienced a metabolic crisis, but asked for contacting the Metabolic Team in different ways than usual due to worries about their health condition. Telemedicine, the possibility of clinical follow-up at home patient (Including blood tests) and reservation of non-COVID-19 beds for hospital admission of IEM patients may have contributed to help IEM adult patients in better face this emergency time.

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SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening

Cited by 2 publications

References 14 publications

Efectos de la pandemia del SARS-CoV-2 en pacientes con errores innatos del metabolismo. Revisión de la literatura.

Efectos de la pandemia del SARS-CoV-2 en pacientes con errores innatos del metabolismo. Revisión de la literatura.

Lifestyle, Nutritional and Psychological Changes in Adult Patients with Inborn Errors of Metabolism during COVID 19 Pandemic: Results from an Online Survey

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