Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
| Autor: | Tomas Honzik, Diana Ballhausen, Martina Huemer, Kimberly A. Chapman, Matthias R. Baumgartner, Carlo Dionisi-Vici, Stephanie Grunewald, Sarah C. Grünert, Sabine Scholl-Bürgi, Anupam Chakrapani, Daniela Karall, Monique Williams, Jörn Oliver Sass, Patrick Forny, Goknur Haliloglu, Femke Molema, Marjorie Dixon, Galit Tal, Friederike Hörster, Michel Hochuli, Diego Martinelli |
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| Přispěvatelé: | Pediatrics |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
610 Medicine & health Context (language use) Free amino diagnosis and management 03 medical and health sciences Health care Genetics Medicine Guideline development ddc:610 guidelines Methylmalonic acidaemia inherited metabolic disease Intensive care medicine Genetics (clinical) First revision 030304 developmental biology 0303 health sciences business.industry 030305 genetics & heredity Original Articles methylmalonic acidaemia 3. Good health Original Article business propionic acidaemia Propionic acidaemia Rare disease |
| Zdroj: | Journal of Inherited Metabolic Disease, 44(3), 566-592. Springer Netherlands Journal of Inherited Metabolic Disease Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A; Dionisi-Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver; Scholl-Bürgi, Sabine; Tal, Galit; Williams, Monique; Huemer, Martina; ... (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), pp. 566-592. Wiley 10.1002/jimd.12370 J Inherit MetabDis. 2021;44:566–592 |
| ISSN: | 0141-8955 |
| DOI: | 10.1002/jimd.12370 |
| Popis: | 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. This article is protected by copyright. All rights reserved. |
| Databáze: | OpenAIRE |
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