Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Détails
Télécharger: 33595124_BIB_859249D2C728.pdf (4138.35 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY-NC-ND 4.0
Etat: Public
Version: Final published version
Licence: CC BY-NC-ND 4.0
ID Serval
serval:BIB_859249D2C728
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Périodique
Journal of inherited metabolic disease
ISSN
1573-2665 (Electronic)
ISSN-L
0141-8955
Statut éditorial
Publié
Date de publication
05/2021
Peer-reviewed
Oui
Volume
44
Numéro
3
Pages
566-592
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Résumé
Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re-evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well-informed decisions in the context of MMA and PA patient care.
Mots-clé
diagnosis and management, guidelines, inherited metabolic disease, methylmalonic acidaemia, propionic acidaemia
Pubmed
Web of science
Open Access
Oui
Création de la notice
22/02/2021 9:02
Dernière modification de la notice
12/01/2022 7:11