4.4 Article

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

期刊

JOURNAL OF INHERITED METABOLIC DISEASE
卷 44, 期 3, 页码 566-592

出版社

WILEY
DOI: 10.1002/jimd.12370

关键词

diagnosis and management; guidelines; inherited metabolic disease; methylmalonic acidaemia; propionic acidaemia

资金

  1. German Society of Pediatrics and Adolescent Medicine
  2. Society for the Study of Inborn Errors of Metabolism
  3. Ministry of Culture and Science of the German State of North Rhine-Westphalia [005-1703-0016]
  4. Ministry of Health of the Czech Republic [RVO VFN 64165]
  5. ITINERARE University Priority Research Programs of the University of Zurich, Switzerland
  6. radiz, Rare Disease Initiative Zurich
  7. Swiss National Science Foundation [31003A_175779]
  8. Faculty of Medicine of the University of Zurich, Filling the Gap Grant, Switzerland
  9. Swiss National Science Foundation (SNF) [31003A_175779] Funding Source: Swiss National Science Foundation (SNF)

向作者/读者索取更多资源

This article summarizes the latest guidelines for isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA), providing a more concise version through an expert panel evaluation and compilation of recommendations to assist healthcare professionals in making informed decisions in patient care.
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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