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

Details

Serval ID
serval:BIB_859249D2C728
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Journal
Journal of inherited metabolic disease
Author(s)
Forny P., Hörster F., Ballhausen D., Chakrapani A., Chapman K.A., Dionisi-Vici C., Dixon M., Grünert S.C., Grunewald S., Haliloglu G., Hochuli M., Honzik T., Karall D., Martinelli D., Molema F., Sass J.O., Scholl-Bürgi S., Tal G., Williams M., Huemer M., Baumgartner M.R.
ISSN
1573-2665 (Electronic)
ISSN-L
0141-8955
Publication state
Published
Issued date
05/2021
Peer-reviewed
Oui
Volume
44
Number
3
Pages
566-592
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
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.
Keywords
diagnosis and management, guidelines, inherited metabolic disease, methylmalonic acidaemia, propionic acidaemia
Pubmed
Web of science
Open Access
Yes
Create date
22/02/2021 9:02
Last modification date
23/10/2021 5:38
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