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.
Adolescent
Adult
Child
Child, Preschool
Emergency Treatment
/ methods
Fasting
Fatty Acids
/ metabolism
Female
Glycogen Storage Disease Type I
/ metabolism
Humans
Hypoglycemia
/ etiology
Infant
Infant, Newborn
Lipid Metabolism, Inborn Errors
/ metabolism
Male
Middle Aged
Oxidation-Reduction
Retrospective Studies
Telemedicine
Young Adult
eHealth
emergency treatment
fatty acid oxidation disorders
glycogen storage diseases
hypoglycemia
telemedicine
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
17
03
2021
received:
24
12
2020
accepted:
09
04
2021
pubmed:
13
4
2021
medline:
27
1
2022
entrez:
12
4
2021
Statut:
ppublish
Résumé
Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of the use of emergency letters based on a generic emergency protocol in patients with hepatic glycogen storage diseases (GSD) or fatty acid oxidation disorders (FAOD). Data on hospital admissions, initial laboratory results, and serious adverse events were collected. Subsequently, the website www.emergencyprotocol.net was generated in the context of the CONNECT MetabERN eHealth project following multiple meetings, protocol revisions, and translations. Representing 470 emergency protocol years, 127 hospital admissions were documented in 54/128 (42%) patients who made use of emergency letters generated based on the generic emergency protocol. Hypoglycemia (here defined as glucose concentration < 3.9 mmol/L) was reported in only 15% of hospital admissions and was uncommon in patients with ketotic GSD and patients with FAOD aged >5 years. Convulsions, coma, or death was not documented. By providing basic information, emergency letters for individual patients with hepatic GSD or the main FAOD can be generated at www.emergencyprotocol.net, in nine different languages. Generic emergency protocols are safe and easy for home management by the caregivers and the first hour in-hospital management to prevent metabolic emergencies in patients with hepatic GSD and medium-chain Acyl CoA dehydrogenase deficiency. The website www.emergencyprotocol.net is designed to support families and healthcare providers to generate personalized emergency letters for patients with hepatic GSD and the main FAOD.
Identifiants
pubmed: 33844307
doi: 10.1002/jimd.12386
pmc: PMC8518720
doi:
Substances chimiques
Fatty Acids
0
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1124-1135Informations de copyright
© 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
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