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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision

  • 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.

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Document Type:Article
Author:Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl-Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner
Parent Title (English):Journal of Inherited Metabolic Disease
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=33595124
Place of publication:Hoboken, NJ, USA
Date of first publication:2021/02/17
Submission status:Early View
Funding information: The German Society of Pediatrics and Adolescent Medicine; The Society for the Study of Inborn Errors of Metabolism; Ministry of Culture and Science of the German State of North Rhine‐Westphalia, Grant/Award Number: 005‐1703‐0016; Ministry of Health of the Czech Republic, Grant/Award Number: RVO VFN 64165; ITINERARE University Priority Research Programs of the University of Zurich, Switzerland; radiz, Rare Disease Initiative Zurich; Swiss National Science Foundation, Grant/Award Number: 31003A_175779; Faculty of Medicine of the University of Zurich, Filling the Gap Grant, Switzerland
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Projects:KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2021/02/19
Licence (German):License LogoCreative Commons - CC BY-NC-ND - Namensnennung - Nicht kommerziell - Keine Bearbeitungen 4.0 International