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

• DOI: 10.1002/jimd.12370
• Publication Date: 2021-02-20T12:48:22Z
• Authors: 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. Baumg...
• Keywords: Guideline; Methylmalonic acidemia; Evidence-Based Practice; Propionic acidemia

Abstract Isolated methylmalonic acidaemia (MMA) and propionic (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis management these disorders has been published for first time. The article received considerable attention, illustrating importance an expert panel to evaluate compile recommendations guide disease patient care. Since that time, growing body transplant outcomes in MMA PA patients use precursor free amino acid mixtures allows updates guidelines. In this article, we aim incorporate newly knowledge provide revised version analysis was performed by multidisciplinary health care experts, who followed updated guideline development methodology (GRADE). Hence, full up until autumn 2019 re‐evaluated, analysed graded. As result, 21 were compiled more concise paper with focus existing enable well‐informed decisions context