COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

Tummolo, Albina; Paterno, Giulia; Dicintio, Annamaria; Stefanizzi, Pasquale; Melpignano, Livio

doi:10.3390/children8090781

Cited by 10 publications

(16 citation statements)

References 12 publications

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“…Studies on the impact and the outcome of COVID-19 infection in IMD patients are scarce. There are a few reports on the clinical impact of COVID-19 infection in IMD patients with different clinical responses ranging from mild to severe presentation ( Zubarioglu et al, 2021 ; Sibulo et al, 2021 ; Saad-Naguib et al, 2021 ; Kaur et al, 2021 ; Caciotti et al, 2020 ; Wongkittichote et al, 2020 ; Climent et al, 2020 ; Lampe et al, 2020 ; Tummolo et al, 2021 ; Tobór-Świętek et al, 2021 ). Due to the uniqueness of this group of patients and the lack of extensive literature reports, the management of COVID-19 infection has been challenging for many health care providers ( Lampe et al, 2020 ; Tobór-Świętek et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience

Altassan¹,

Sulaiman²,

Alfalah³

et al. 2022

European Journal of Medical Genetics

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Section: Introductionmentioning

confidence: 99%

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience

Altassan¹,

Sulaiman²,

Alfalah³

et al. 2022

European Journal of Medical Genetics

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“…However, patients with PKU are less subjected to such influences than most patients with IMD. Tummolo et al [ 22 ] reported a moderate influence of the COVID-19 pandemic on a relatively numerous cohort of IMD patients, which included children and young adults, but Chung et al established that patients with rare diseases had a 3.4 times higher OR of hospital death from COVID-19-related causes than the general population [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

et al. 2022

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The first pandemic lockdown dramatically impacted many aspects of everyday life, including healthcare systems. The purpose of this study was to identify problems of patients with phenylketonuria (PKU) and their parents/caregivers during that time. We aimed to analyse potential differences in the self-reported compliance and characteristics of contacts with a doctor/dietitian before and during the pandemic lockdown and the perception of access to special food and opinions on remote contacts between a particular group of respondents. All participants (n = 614) were asked to complete an online questionnaire that consisted of 31 questions on pandemic-related events and circumstances which may have directly or indirectly impacted health and treatment. The people who completed the survey were divided into three groups: parents of PKU children (n = 403), parents of PKU adults (n = 58) and PKU patients older than 16 years (n = 153). The differences among the three analysed groups were found in the number of contacts, the way of contacting a doctor/dietitian during the pandemic and satisfaction with remote contact. Caregivers of children with PKU reported better therapy compliance, more frequent contacts with specialists and more satisfaction with remote visits than adult patients. We also observed a relationship between satisfaction from remote contact and self-reported frequency of contacts with a doctor/dietitian, as well as a relationship between satisfaction from remote contact and recommended blood Phe levels reported by both patients and caregivers. Travel time exceeding three hours from the respondents’ location to their doctor was associated with higher odds of their recognition of remote contact as a method of PKU treatment only in the group of caregivers. In the caregiver groups, the reported worse access to low-Phe products during the lockdown was linked to the perceived difficulty of maintaining the diet. However, such a relationship was not found among patients. In conclusion, significant differences in the perception of the pandemic lockdown and its impact on health and treatment-related issues were found.

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Section: Discussionmentioning

confidence: 99%

“…The effects of COVID-19 infection in patients with MSUD have only been documented in two prior publications [ 6 , 7 ]. The first, an observational cohort study examining COVID-19 infection in patients with inborn errors of metabolism at a children’s hospital, reported a 26-year-old patient with MSUD who presented seven days after a positive COVID-19 test with encephalopathy and emesis after multiple days of poor appetite [ 6 ]. This patient’s leucine level peaked at 708 µmol/L, which was, for her, consistent with an acute metabolic crisis, and she was treated with a sick-day diet protocol and intravenous fluids, much like our patient.…”

Section: Discussionmentioning

confidence: 99%

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease

Morton¹,

Goetz²,

Linscott³

et al. 2022

Cureus

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Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by a defect in the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC). This leads to the accumulation of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine, which can cause neurotoxicity. Patients with MSUD are carefully managed from birth with dietary restrictions and can acutely decompensate in the setting of infections or injury. We present the case of a 29-year-old female with a history of MSUD and rheumatoid arthritis on methotrexate and adalimumab who presented to our emergency department with symptoms suggestive of a metabolic crisis including nausea, vomiting, and presyncope. She was diagnosed with coronavirus disease 2019 (COVID-19) and admitted. An initial leucine level was mildly elevated at 253 μmol/L, consistent with her underlying metabolic condition. She was placed on an infusion of normal saline and 10% Dextrose (D10) in addition to a protein-restricted sick-day diet. Remdesivir therapy was initiated due to her immunocompromised status and high risk for decompensation but had to be discontinued due to nausea and vomiting that negatively impacted the patient’s oral intake. Her leucine level peaked at 647 μmol/L; however, her neurologic examination remained benign without signs of cerebral edema. With prompt involvement of our metabolic genetics team and initiation of intravenous fluids and the sick-day diet protocol, we avoided a metabolic crisis. The patient was discharged on day 5 of hospitalization with no complications from COVID-19 infection. This case highlights the individualized approach to the treatment of COVID-19 infection in a patient with a metabolic disorder. COVID-19 infection in the setting of MSUD has only been reported in two prior publications, one being a severe metabolic crisis with neurologic involvement. Fortunately, our patient experienced a mild case of COVID-19 without significant respiratory symptoms, and we were able to prevent a metabolic crisis during admission.

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COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

Cited by 10 publications

References 12 publications

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease

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