A retrospective analysis of metabolic control in children with PKU in the COVID-19 era

Becsei, Dóra; Kiss, Erika; Szatmári, Ildikó; Arató, András; Reusz, György; Szabó, Attila; Bókay, János; Zsidegh, Petra

doi:10.1016/j.ymgmr.2022.100897

Cited by 4 publications

(1 citation statement)

References 28 publications

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“…PKU patients experienced new challenges during COVID-19 pandemic such as the very limited access to the routine care (on-site clinical visits, metabolic controls, blood monitoring frequencies by means of self-sampling), the insecurity regarding the access to the medical and special low-protein foods they need [ 33 ]. Despite the movement restrictions and the quarantine measures that many countries implemented during the COVID-19 pandemic, newborn screening and metabolic controls did not experience a discontinuity in especially for children and adolescent patients in Hungary and Italy [ 34 – 35 ]. On the contrary, adherence to the recommended measurement intervals decreased during the pandemic for PKU patients over 16 years and young adults in Austria [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

Cannizzo,

Quoidbach,

Giunti

et al. 2024

Orphanet J Rare Dis

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One of the most relevant challenges for healthcare providers during the COVID– 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare diseases (RDs). The COVID–19 pandemic accelerated the healthcare sector’s digital transformation agenda. The delivery of telemedicine services instead of many face-to-face procedures has been expanded and, many healthcare services not directly related to COVID-19 treatments shifted online remotely. Many hospitals, specialist centres, patients and families started to use telemedicine because they were forced to. This trend could directly represent a good practice on how care services could be organized and continuity of care could be ensured for patients. If done properly, it could boast improved patient outcomes and become a post COVID-19 major shift in the care paradigm. There is a fragmented stakeholders spectrum, as many questions arise on: how is e-health interacting with ‘traditional’ healthcare providers; about the role of the European Reference Networks (ERNs); if remote care can retain a human touch and stay patient centric. The manuscript is one of the results of the European Brain Council (EBC) Value of Treatment research project on rare brain disorders focusing on progressive ataxias, dystonia and phenylketonuria with the support of Academic Partners and in collaboration with European Reference Networks (ERNs) experts, applying empirical evidence from different European countries. The main purpose of this work is to investigate the impact of the COVID-19 pandemic on the continuity of care for ataxias, dystonia and phenylketonuria (PKU) in Europe. The analysis carried out makes it possible to highlight the critical points encountered and to learn from the best experiences. Here, we propose a scoping review that investigates this topic, focusing on continuity of care and novel methods (e.g., digital approaches) used to reduce the care disruption. This scoping review was designed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR) standards. This work showed that the implementation of telemedicine services was the main measure that healthcare providers (HCPs) put in place and adopted for mitigating the effects of disruption or discontinuity of the healthcare services of people with rare neurological diseases and with neurometabolic disorders in Europe.

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Section: Discussionmentioning

confidence: 99%

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

Cannizzo,

Quoidbach,

Giunti

et al. 2024

Orphanet J Rare Dis

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Impact of the COVID-19 Era on Phenylalanine Levels and Classical Phenylketonuria Patients Follow-Up: A Retrospective Analysis

Kahraman,

Yıldız,

Geçici

et al. 2024

Türkiye Çocuk Hast Derg

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Objective: Phenylketonuria is a metabolic disorder resulting from mutations in the PAH gene, causing elevated blood phenylalanine (Phe) levels which can lead to severe neurological damage if untreated. The primary treatment is a lifelong low-protein diet with amino acid substitutes and micronutrient supplements. During the COVID-19 pandemic, classical phenylketonuria (PKU) patients faced significant challenges, including restricted access to routine care like clinical visits and metabolic control monitoring. The aim of the this study was to examine the disruptions in outpatient visits, the variances in pre- and post-pandemic Phe levels, and clinical severity among patients who contracted COVID-19. Material and Methods: Starting from the pandemic date of March 11, 2020, demographic data, laboratory characteristics, and details about COVID-19 infection were retrospectively reviewed for classical PKU patients with accessible electronic records from March 2018 to March 2022. Results: When the median blood Phe levels before and after the pandemic were compared, a significant difference was found. We observed that adult patients diagnosed with classical PKU often defaulted on their follow-up appointments. Conclusion: The COVID-19 pandemic significantly disrupted the follow-up and management of classical PKU patients. However, no severe COVID-19 cases were reported among this population, suggesting they did not face an increased risk from the infection. This study emphasizes the critical need to develop robust strategies for patient engagement and follow-up, especially for adult classical PKU patients who are at risk of discontinuing routine care.

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Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Pinto,

Ahring,

Almeida

et al. 2024

Nutrients

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Background: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age. Other studies have shown similar results across the globe. Different target blood Phe levels have been used throughout the years, and, in 2017, the European PKU guidelines defined new targets for blood Phe levels. This study aimed to evaluate blood Phe control in patients with PKU across Europe. Methods: nine centres managing PKU in Europe and Turkey participated. Data were collected retrospectively from medical and dietetic records between 2012 and 2018 on blood Phe levels, PKU severity, and medications. Results: A total of 1323 patients (age range:1–57, 51% male) participated. Patient numbers ranged from 59 to 320 in each centre. The most common phenotype was classical PKU (n = 625, 48%), followed by mild PKU (n = 357, 27%) and hyperphenylalaninemia (HPA) (n = 325, 25%). The mean percentage of blood Phe levels within the target range ranged from 65 ± 54% to 88 ± 49% for all centres. The percentage of Phe levels within the target range declined with increasing age (<2 years: 89%; 2–5 years: 84%; 6–12 years: 73%; 13–18 years: 85%; 19–30 years: 64%; 31–40 years: 59%; and ≥41 years: 40%). The mean blood Phe levels were significantly lower and the percentage within the target range was significantly higher (p < 0.001) in patients with HPA (290 ± 325 μmol/L; 96 ± 24%) and mild PKU (365 ± 224 μmol/L; 77 ± 36%) compared to classical PKU (458 ± 350 μmol/L, 54 ± 46%). There was no difference between males and females in the mean blood Phe levels (p = 0.939), but the percentage of Phe levels within the target range was higher in females among school-age children (6–12 years; 83% in females vs. 78% in males; p = 0.005), adolescents (13–18 years; 62% in females vs. 59% in males; p = 0.034) and adults (31–40 years; 65% in females vs. 41% in males; p < 0.001 and >41 years; 43% in females vs. 28% in males; p < 0.001). Patients treated with sapropterin (n = 222) had statistically significantly lower Phe levels compared to diet-only-treated patients (mean 391 ± 334 μmol/L; percentage within target 84 ± 39% vs. 406 ± 334 μmol/L; 73 ± 41%; p < 0.001), although a blood Phe mean difference of 15 µmol/L may not be clinically relevant. An increased frequency of blood Phe monitoring was associated with better metabolic control (p < 0.05). The mean blood Phe (% Phe levels within target) from blood Phe samples collected weekly was 271 ± 204 μmol/L, (81 ± 33%); for once every 2 weeks, it was 376 ± 262 μmol/L, (78 ± 42%); for once every 4 weeks, it was 426 ± 282 μmol/L, (71 ± 50%); and less than monthly samples, it was 534 ± 468 μmol/L, (70 ± 58%). Conclusions: Overall, blood Phe control deteriorated with age. A higher frequency of blood sampling was associated with better blood Phe control with less variability. The severity of PKU and the available treatments and resources may impact the blood Phe control achieved by each treatment centre.

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A retrospective analysis of metabolic control in children with PKU in the COVID-19 era

Cited by 4 publications

References 28 publications

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

Impact of the COVID-19 Era on Phenylalanine Levels and Classical Phenylketonuria Patients Follow-Up: A Retrospective Analysis

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

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