Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet

Ousmane, Abdoulaye; Resseguier, Noémie; Cano, Aline; Lonlay, Pascale de; Arnoux, Jean‐Baptiste; Brassier, Anaïs; Schiff, Manuel; Pichard, Samia; Fabre, Alexandre; Hoebeke, Célia; Guffon, Nathalie; Fouilhoux, Alain; Broué, Pierre; Touati, Guy; Dobbelaere, Dries; Mention, Karine; Labarthe, François; Tardieu, M.; Parscau, L. De; Feillet, François; Bonnemains, C.; Küster, Alice; Labrune, Philippe; Barth, Magalie; Damaj, Léna; Lamireau, Delphine; Berbis, Julie; Auquier, Pascal; Chabrol, B.

doi:10.1016/j.jpeds.2021.11.021

Cited by 7 publications

(5 citation statements)

References 66 publications

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“…This fear can negatively influence patient and caregivers´psychological state or adaptive functioning [29,30]. Adjustments to acute situations require maintaining a dynamic cooperation between patients, families and the healthcare team [31]. However, this need is not adequately covered by healthcare services.…”

Section: Discussionmentioning

confidence: 99%

Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

Sánchez-Pintos,

Camba-Garea,

López-Pardo

et al. 2024

Nutrients

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Strict adherence to a diet is an essential pillar of long-term treatment for many inborn errors of metabolism (IEMs). Tools that educate patients about dietary management can positively condition adherence and prevent morbidity. We designed a free online dietary calculation program (Odimet®, version 2.1.) for IEMs patients in 2008, updated in 2022, that provides detailed information on the content of amino acids, protein, lipids, carbohydrates, vitamins and minerals in >3000 food products, including specific medical foods for IEM. We analyzed the statistics on visits to Odimet® to evaluate its usefulness for long-term dietary management during a 5-year period focusing on three periods: pre-pandemic (15 March 2018–14 March 2020); pandemic 1 (15 March 2020–14 March 2021); and pandemic 2 period (15 March 2021–15 March 2023), in 120 patients with the following distribution: 84 patients with phenylketonuria (PKU); 12 with maple syrup urine disease (MSUD); 11 with urea cycle disorders (UCDs); and 13 with classical galactosemia. The evolutionary levels of their specific metabolic markers were evaluated, showing that globally, both pediatric and adult patients maintain a good metabolic control, even during a pandemic (median levels of phenylalanine in pediatric PKU patients 213.4 µmol/L and 482.3 µmol/L in adults; of leucine in MSUD patients: 144.2 µmol/L; of glutamine in UCDs: 726.8 µmol/L; and of galactose 1-phosphate levels in galactosemia: 0.08 µmol/L). The proportion of patients using Odimet® ranges from 78–100%. An increase in the number of diets being calculated was observed during COVID-19 pandemic. Currently, 14,825 products have been introduced (3094 from the general database, and 11,731 added by users to their own profiles). In 2023 63 emergency dietary adjustments in the studied intoxication-type pathologies were calculated in Odimet®. Our results suggest that its regular use contributes to maintaining metabolic stability in IEMs patients, allowing them to adapt their menus to their lifestyle, and represents a powerful complementary tele-health tool which can be used to perform remote real-time dietary follow-up.

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Section: Discussionmentioning

confidence: 99%

Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

Sánchez-Pintos,

Camba-Garea,

López-Pardo

et al. 2024

Nutrients

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“…Fabre et al [ 41 ] reported that the QoL of children and their parents in those children with IMD that require protein restricted diet was lower than the average QoL in other pediatric chronic diseases. AbdoulayeOuattara et al [ 42 ] concluded that psychosocial factors appear to be major determinants of QoL impairment in children with IMD receiving a restricted diet. A multicenter study showed that children and adolescents with intoxication-type IMD have significantly impaired health-related QoL compared to healthy controls and concluded that dietary treatment is considered a major burden, since it affects the daily routine of patients and their families [ 43 ].…”

Section: Discussionmentioning

confidence: 99%

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

Rovira-Remisa¹,

Moreira²,

Ventura³

et al. 2023

Molecular Genetics and Metabolism Reports

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“…Despite ongoing development and testing of various strategies, including gene therapy, dietary modifications or restrictions remain fundamental therapeutic tools. However, managing patients with these rare diseases necessitates comprehensive care involving multidisciplinary teams and extensive involvement of families and caregivers and necessitates comprehensive care involving education, support, and adherence to dietary treatments [ 76 , 77 ]. Challenges persist, including the complexity of nutritional calculations, limited food product labeling information, poor palatability of supplements, and dosage fragmentation issues [ 25 ].…”

Section: Navigating Metabolic Mazes: Pioneering Precision Medicine In...mentioning

confidence: 99%

3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

Carou-Senra,

Rodríguez-Pombo,

Monteagudo-Vilavedra

et al. 2023

Nutrients

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The incidence of Inborn Error of Intermediary Metabolism (IEiM) diseases may be low, yet collectively, they impact approximately 6–10% of the global population, primarily affecting children. Precise treatment doses and strict adherence to prescribed diet and pharmacological treatment regimens are imperative to avert metabolic disturbances in patients. However, the existing dietary and pharmacological products suffer from poor palatability, posing challenges to patient adherence. Furthermore, frequent dose adjustments contingent on age and drug blood levels further complicate treatment. Semi-solid extrusion (SSE) 3D printing technology is currently under assessment as a pioneering method for crafting customized chewable dosage forms, surmounting the primary limitations prevalent in present therapies. This method offers a spectrum of advantages, including the flexibility to tailor patient-specific doses, excipients, and organoleptic properties. These elements are pivotal in ensuring the treatment’s efficacy, safety, and adherence. This comprehensive review presents the current landscape of available dietary products, diagnostic methods, therapeutic monitoring, and the latest advancements in SSE technology. It highlights the rationale underpinning their adoption while addressing regulatory aspects imperative for their seamless integration into clinical practice.

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Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet

Cited by 7 publications

References 66 publications

Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

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