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.

Department of Diabetes Endocrinology Nutritional Medicine and Metabolism Inselspital Bern University Hospital and University of Bern Bern Switzerland

Department of General Paediatrics Adolescent Medicine and Neonatology Medical Centre University of Freiburg Faculty of Medicine Freiburg Germany

Department of Natural Sciences and Institute for Functional Gene Analytics Bonn Rhein Sieg University of Applied Sciences Rheinbach Germany

Department of Paediatrics 1 Inherited Metabolic Disorders Medical University of Innsbruck Innsbruck Austria

Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Department of Paediatrics Landeskrankenhaus Bregenz Bregenz Austria

Department of Pediatrics Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam The Netherlands

Department of Pediatrics Division of Pediatric Neurology Hacettepe University Children's Hospital Ankara Turkey

Dietetics Great Ormond Street Hospital for Children NHS Foundation Trust London UK

Division of Metabolism and Children's Research Center University Children's Hospital Zurich University of Zurich Zurich Switzerland

Division of Metabolism Department of Pediatric Specialties Bambino Gesù Children's Hospital Rome Italy

Division of Neuropediatrics and Metabolic Medicine University Hospital Heidelberg Heidelberg Germany

Metabolic Medicine Department Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health NIHR Biomedical Research Center University College London London UK

Metabolic Unit Ruth Rappaport Children's Hospital Rambam Health Care Campus Haifa Israel

Paediatric Unit for Metabolic Diseases Department of Woman Mother Child University Hospital Lausanne Lausanne Switzerland

Rare Disease Institute Children's National Health System Washington District of Columbia USA

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J Inherit Metab Dis. 2022 Jul;45(4):862. doi: 10.1002/jimd.12535. PubMed

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