A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net

Rossi, Alessandro; Hoogeveen, Irene J.; Lubout, Charlotte M. A.; Boer, Foekje de; Fokkert-Wilts, Marieke J; Rodenburg, Iris L; Dam, Esther van; Grünert, Sarah C.; Martinelli, Diego; Scarpa, Maurizio; Dekker, Hanka; Boekhorst, Sebastiaan te; Spronsen, Francjan J. van; Derks, Terry G J

doi:10.1002/jimd.12386

Cited by 13 publications

(16 citation statements)

References 32 publications

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“…Finally, from a healthcare provider perspective, in the event of hospitalisation due to metabolic decompensation, local or regional healthcare providers are often responsible for initiating emergency treatment; however, many feel they have insufficient knowledge to start this independently. Prompt safe and effective emergency treatment of metabolic decompensation is crucial for patients with GSDIa, and an international effort has been made to develop a simple, shared emergency protocol, which can be generated online at any time by local physicians and families [74].…”

Section: Burden Of Disease Management and Monitoringmentioning

confidence: 99%

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

et al. 2021

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Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed.

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Section: Burden Of Disease Management and Monitoringmentioning

confidence: 99%

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

et al. 2021

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“…In conclusion, the clinical course of SBCADD remains poorly predictable. Therefore, regular clinical monitoring (including serum glucose, ammonia and CK concentrations, liver function tests, blood gases, heart ultrasound, electrocardiogram, weight, height, and psychomotor development assessment) together with general advice on how to prevent catabolism is recommended ( 15 , 23 , 29 ). As serum C5 appears as a potential long-term biomarker for patients' (treatment) monitoring we suggest including regular serum C5 assessment in patients' monitoring.…”

Section: Discussionmentioning

confidence: 99%

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

Rossi

Turturo²,

Albano³

et al. 2022

Front. Pediatr.

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IntroductionShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. The role of current diagnostic biomarkers [i.e., blood 2-methylbutyrylcarnitine (C5) and urine 2-methylbutyrylglycine (2MBG)] in patient monitoring and the effects of proposed treatments remain uncertain as follow-data are lacking. This study presents first systematic longitudinal biochemical assessment in SBCADD patients.MethodsA retrospective, observational single-center study was conducted on newborns born between 2017 and 2020 and suspected with SBCADD. Biochemical, molecular, clinical and dietary data collected upon NBS recall and during the subsequent follow-up were recorded.ResultsAll enrolled subjects (n = 10) received adequate protein intake and L-carnitine supplementation. Nine subjects were diagnosed with SBCADD. During the follow-up [median: 20.5 (4–40) months] no patient developed symptoms related to SBCADD. No patient normalized serum C5 and urine 2MBG values. In 7/9 SBCADD patients mean serum C5 values decreased or stabilized compared to their first serum C5 value. A major increase in serum C5 values was observed in two patients after L-carnitine discontinuation and during intercurrent illness, respectively. Urine 2MBG values showed moderate intra-patient variability.DiscussionThe relatively stable serum C5 values observed during L-carnitine supplementation together with C5 increase occurring upon L-carnitine discontinuation/intercurrent illness may support the value of serum C5 as a monitoring biomarker and the benefit of this treatment in SBCADD patients. The role of urine 2MBG in patient monitoring remains uncertain. As all patients were asymptomatic, no association between biochemical parameters and clinical phenotype could be investigated in this study.

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“… 36 , 50 Widespread availability of evidence-based emergency protocols is highly important; through international collaboration involving MetabERN, generic emergency protocols for patients with fasting intolerance in eight languages and an on-line tool for generating protocols for individual patients were developed ( https://www.emergencyprotocol.net/ ). 59 …”

Section: Discussionmentioning

confidence: 99%

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

Tumienė¹,

Riera²,

Grikinienė³

et al. 2022

JMDH

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More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of patients and families. Multidisciplinary care involves all stages of disease management: diagnostics, specific or symptomatic, acute and chronic treatments, and integrated care that takes into account not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers. Care coordination is indispensable to ensure smooth transitions of care across life and disease stages, including management of emergencies, transition from pediatric to adult services and palliative care. Care pathways are highly diverse and have to find the right balance between highly specialized and locally provided services. While multidisciplinary teams consist of many professionals, a named supervising physician in a highly specialized healthcare setting and a care coordinator are highly important. As the greatest burden of care always falls onto the shoulders of patients and/or families, patient empowerment should be a part of every care pathway and include provision of required information, involvement into common decision-making, patient’s and family’s education, support for self-management, liaison with peer support groups and emotional/ psychological support. Due to the rarity and complexity of these diseases, sufficient expertise may not be available in a national healthcare system and cross-border services (virtual or physical) in the recently developed European Reference Networks should be ensured through the proper organization of referral systems in each EU and EEA country. Finally, digital technologies are particularly important in the provision of services for patients with rare diseases and can significantly increase the availability of highly specialized services and expertise.

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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net

Cited by 13 publications

References 32 publications

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

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