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

{"article_title":"Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.","author":"Forny P, H\u00f6rster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Gr\u00fcnert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-B\u00fcrgi S, Tal G, Williams M, Huemer M, Baumgartner MR","journal_title":"Journal of inherited metabolic disease","issn":"1573-2665","isbn":"","publication_date":"2021-05-01","volume":"44","issue":"3","first_page":"566","page_count":"","accession_number":"33595124","doi":"","publisher":"Wiley","doctype":"Journal Article","subjects":"Amino Acid Metabolism, Inborn Errors diagnosis; Amino Acid Metabolism, Inborn Errors therapy; Propionic Acidemia diagnosis; Propionic Acidemia therapy; Disease Management; Humans","interest_area":["Internal Medicine"],"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. \u00a9 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.","url":"https:\/\/search.ebscohost.com\/login.aspx?direct=true&db=mdl&AN=33595124","isPdfLink":true,"isSAML":false,"an":"33595124","number_other":"","type_pub":"","issn_electronic":"1573-2665","languages":"English","language":"eng","date_entry":"","date_update":"","titleSource":"Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 566-592. Date of Electronic Publication: 2021 Mar 09.","date_pub_cy":"","type_document":"","contract_publisher":"","authored_on":"2021-05-01","description":"Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six\u2009years 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\u2009care 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.<br \/> (© 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)","upload_link":"https:\/\/search.ebscohost.com\/login.aspx?direct=true&site=eds-live&db=mdl&AN=33595124&authtype=shib&custid=ns346513&group=main&profile=eds","no_of_pages":"","authored_by":"Forny P, H\u00f6rster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Gr\u00fcnert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-B\u00fcrgi S, Tal G, Williams M, Huemer M, Baumgartner MR","header":{"DbId":"mdl","DbLabel":"MEDLINE Ultimate","An":"33595124","RelevancyScore":"892","PubType":"Academic Journal","PubTypeId":"academicJournal","PreciseRelevancyScore":"891.547546386719"},"plink":"https:\/\/search.ebscohost.com\/login.aspx?direct=true&site=eds-live&db=mdl&AN=33595124&authtype=shib&custid=ns346513&group=main&profile=eds","physicalDescription":{"Pagination":{"StartPage":"566"}},"additionalInfo":{"Authored_By":"Forny P, H\u00f6rster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Gr\u00fcnert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-B\u00fcrgi S, Tal G, Williams M, Huemer M, Baumgartner MR","Journal_Info":"Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE","Publication_Type":"Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't","Published_Date":"2021-05-01","Source":"Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 566-592. Date of Electronic Publication: 2021 Mar 09.","Languages":"English","Electronic_ISSN":"1573-2665","MeSH_Terms":"Amino Acid Metabolism, Inborn Errors\/*diagnosis , Amino Acid Metabolism, Inborn Errors\/*therapy , Propionic Acidemia\/*diagnosis , Propionic Acidemia\/*therapy, Disease Management ; Humans","Subjects":"Disease Management, Humans, Amino Acid Metabolism, Inborn Errors diagnosis, Amino Acid Metabolism, Inborn Errors therapy, Propionic Acidemia diagnosis, Propionic Acidemia therapy","Title_Abbreviations":"Journal of inherited metabolic disease","Volume":"44"}}