Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Matthias R. Baumgartner1, Friederike Hörster2, Carlo Dionisi‐Vici3, Göknur Haliloğlu4, Daniela Karall5, Kimberly A. Chapman6, Martina Huemer1, Michel Hochuli7, Murielle Assoun8, Diana Ballhausen9, Alberto Burlina10, Brian Fowler1, Sarah C. Grünert11, Stéphanie Grünewald12, Tomáš Honzík13, Begoña Merinero14, Celia Pérez–Cerdá14, Sabine Scholl‐Bürgi5, Flemming Skovby15, Frits A. Wijburg16, Anita MacDonald17, Diego Martinelli18, Jörn Oliver Sass19, Vassili Valayannopoulos20, Anupam Chakrapani21
1Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland
2University Children's Hospital, Im Neuenheimer Feld 150, Heidelberg, 69120, Germany
3Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, Rome, 00165, Italy
4Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara, Turkey
5Medical University Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, Innsbruck, 6020, Austria
6Section of Genetics and Metabolism, Children's National Health System, Washington, DC, USA
7Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland
8Dietician, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, Paris, 75015, France
9Centre for Molecular Diseases, University Children's Hospital, Avenue Pierre Decker 2, Lausanne, 1011, Switzerland
10Department of Pediatrics, University of Padua, Via Giustiniani 3, Padova, 35128, Italy
11Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Mathildenstr. 1, Freiburg, 79106, Germany
12Metabolic Unit, Great Ormond Street Hospital, Institute of Child Health, Great Ormond Street, London, WC1N 3JH, UK
13Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
14Centro de Diagn'stico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma de Madrid, IDIPAZ, CIBER de Enfermedades Raras (CIBERER), Madrid, 28049, Spain
15Department of Clinical Genetics, University Hospital, Rigshospitalet 4062, Blegdamsvej 9, Copenhagen, 2100, Denmark
16Department of Pediatrics, Academic Medical Center (AMC), Meibergdreef 9, Amsterdam, 1105, AZ, the Netherlands
17Dietetic Department, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, United Kingdom
18Division of Metabolism, Bambino Gesù Children's Hospital, IRCSS, Piazza S. Onofrio 4, Rome, I-00165, Italy
19Division of Clinical Chemistry and Biochemisty, Children's Research Centre, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland
20Reference Center for Inherited Metabolic Disease and IMAGINE Institute, Hôpital Necker-Enfants Malades 149, rue de Sèvres, Paris, 75743, Cedex 15, France
21Department of Metabolic Medicine, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK

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