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

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

doi:10.1002/jimd.12370

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

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 HuemerMatthias R. Baumgartner^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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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.

Original language	English
Pages (from-to)	566-592
Number of pages	27
Journal	Journal of Inherited Metabolic Disease
Volume	44
Issue number	3
Early online date	17 Feb 2021
DOIs	https://doi.org/10.1002/jimd.12370
Publication status	Published - May 2021

Bibliographical note

ACKNOWLEDGMENTS:
We thank the external reviewers, namely Burkhard
Toenshoff (nephrology) and Christoph Aufricht (nephrology), Alexander Kovacevic (cardiology), Angels GarcíaCazorla (neurology) and Stefan Koelker (neurology),
Alessio Cremonesi (biochemist), Daniela Moor (dietetics)
and the patient representatives Marike Groenendijk
(chair Stofwisselkracht, Dutch patient organisation) and
Hanka Dekker (executive director of Vereniging Volwassenen, Kinderen en Stofwisselingsziekten) for significant input and evaluation of the guidelines. P. F. is
supported by the Filling the Gap grant awarded by the
Medical Faculty of the University of Zurich, Switzerland.
M. R. B. is supported by a grant from the Swiss National
Science Foundation (31003A_175779) and by the radiz,
Rare Disease Initiative Zurich and ITINERARE University Priority Research Programs of the University of
Zurich, Switzerland. The Society for the Study of Inborn
Errors of Metabolism (SSIEM) and The German Society
of Pediatrics and Adolescent Medicine supported the
development process of these guidelines to enable the
face-to-face meeting in Brussels and cover other administrative costs. T. H. was supported by research grants from
the Ministry of Health of the Czech Republic RVO VFN
64165. J. O. S. gratefully acknowledges financial support
by the program ‘FH Zeit für Forschung’ (project
‘KETOplus’, 005-1703-0016) of the Ministry of Culture
and Science of the German State of North Rhine-Westphalia. The other authors do not declare any specific
funding related to this work.

Publisher Copyright: © 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

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J of Inher Metab Disea - 2021 - Forny - Guidelines for the diagnosis and management of methylmalonic acidaemia andFinal published version, 3.93 MBLicence: CC BY-NC-ND

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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., ... Baumgartner, M. R. (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of Inherited Metabolic Disease, 44(3), 566-592. https://doi.org/10.1002/jimd.12370

@article{92b20fb22f6648afb853afabe47afb0f,

title = "Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision",

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.",

author = "Patrick Forny and Friederike H{\"o}rster and Diana Ballhausen and Anupam Chakrapani and Chapman, \{Kimberly A.\} and Carlo Dionisi-Vici and Marjorie Dixon and Gr{\"u}nert, \{Sarah C.\} and Stephanie Grunewald and Goknur Haliloglu and Michel Hochuli and Tomas Honzik and Daniela Karall and Diego Martinelli and Femke Molema and Sass, \{J{\"o}rn Oliver\} and Sabine Scholl-B{\"u}rgi and Galit Tal and Monique Williams and Martina Huemer and Baumgartner, \{Matthias R.\}",

note = "ACKNOWLEDGMENTS: We thank the external reviewers, namely Burkhard Toenshoff (nephrology) and Christoph Aufricht (nephrology), Alexander Kovacevic (cardiology), Angels Garc{\'i}aCazorla (neurology) and Stefan Koelker (neurology), Alessio Cremonesi (biochemist), Daniela Moor (dietetics) and the patient representatives Marike Groenendijk (chair Stofwisselkracht, Dutch patient organisation) and Hanka Dekker (executive director of Vereniging Volwassenen, Kinderen en Stofwisselingsziekten) for significant input and evaluation of the guidelines. P. F. is supported by the Filling the Gap grant awarded by the Medical Faculty of the University of Zurich, Switzerland. M. R. B. is supported by a grant from the Swiss National Science Foundation (31003A\_175779) and by the radiz, Rare Disease Initiative Zurich and ITINERARE University Priority Research Programs of the University of Zurich, Switzerland. The Society for the Study of Inborn Errors of Metabolism (SSIEM) and The German Society of Pediatrics and Adolescent Medicine supported the development process of these guidelines to enable the face-to-face meeting in Brussels and cover other administrative costs. T. H. was supported by research grants from the Ministry of Health of the Czech Republic RVO VFN 64165. J. O. S. gratefully acknowledges financial support by the program {\textquoteleft}FH Zeit f{\"u}r Forschung{\textquoteright} (project {\textquoteleft}KETOplus{\textquoteright}, 005-1703-0016) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia. The other authors do not declare any specific funding related to this work. Publisher Copyright: {\textcopyright} 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley \& Sons Ltd on behalf of SSIEM.",

year = "2021",

month = may,

doi = "10.1002/jimd.12370",

language = "English",

volume = "44",

pages = "566--592",

journal = "Journal of Inherited Metabolic Disease",

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Forny, P, Hörster, F, Ballhausen, D, Chakrapani, A, Chapman, KA, Dionisi-Vici, C, Dixon, M, Grünert, SC, Grunewald, S, Haliloglu, G, Hochuli, M, Honzik, T, Karall, D, Martinelli, D, Molema, F, Sass, JO, Scholl-Bürgi, S, Tal, G, Williams, M, Huemer, M & Baumgartner, MR 2021, 'Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision', Journal of Inherited Metabolic Disease, vol. 44, no. 3, pp. 566-592. https://doi.org/10.1002/jimd.12370

TY - JOUR

T1 - Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia

T2 - First revision

AU - Forny, Patrick

AU - Hörster, Friederike

AU - Ballhausen, Diana

AU - Chakrapani, Anupam

AU - Chapman, Kimberly A.

AU - Dionisi-Vici, Carlo

AU - Dixon, Marjorie

AU - Grünert, Sarah C.

AU - Grunewald, Stephanie

AU - Haliloglu, Goknur

AU - Hochuli, Michel

AU - Honzik, Tomas

AU - Karall, Daniela

AU - Martinelli, Diego

AU - Molema, Femke

AU - Sass, Jörn Oliver

AU - Scholl-Bürgi, Sabine

AU - Tal, Galit

AU - Williams, Monique

AU - Huemer, Martina

AU - Baumgartner, Matthias R.

N1 - ACKNOWLEDGMENTS: We thank the external reviewers, namely Burkhard Toenshoff (nephrology) and Christoph Aufricht (nephrology), Alexander Kovacevic (cardiology), Angels GarcíaCazorla (neurology) and Stefan Koelker (neurology), Alessio Cremonesi (biochemist), Daniela Moor (dietetics) and the patient representatives Marike Groenendijk (chair Stofwisselkracht, Dutch patient organisation) and Hanka Dekker (executive director of Vereniging Volwassenen, Kinderen en Stofwisselingsziekten) for significant input and evaluation of the guidelines. P. F. is supported by the Filling the Gap grant awarded by the Medical Faculty of the University of Zurich, Switzerland. M. R. B. is supported by a grant from the Swiss National Science Foundation (31003A_175779) and by the radiz, Rare Disease Initiative Zurich and ITINERARE University Priority Research Programs of the University of Zurich, Switzerland. The Society for the Study of Inborn Errors of Metabolism (SSIEM) and The German Society of Pediatrics and Adolescent Medicine supported the development process of these guidelines to enable the face-to-face meeting in Brussels and cover other administrative costs. T. H. was supported by research grants from the Ministry of Health of the Czech Republic RVO VFN 64165. J. O. S. gratefully acknowledges financial support by the program ‘FH Zeit für Forschung’ (project ‘KETOplus’, 005-1703-0016) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia. The other authors do not declare any specific funding related to this work. Publisher Copyright: © 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

PY - 2021/5

Y1 - 2021/5

N2 - 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.

AB - 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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DO - 10.1002/jimd.12370

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AN - SCOPUS:85102264990

SN - 0141-8955

VL - 44

SP - 566

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JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 3

ER -

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

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Bibliographical note

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