Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.

AP HP Bichat Hospital Université Paris Descartes Paris France

AP HP Necker University Hospital Hepatology and Gastroenterology Unit French National Reference Centre for Biliary Atresia and Genetic Cholestasis Paris France

AP HP Service d'Hématologie Biologique Hôpital R Debré Paris France

Biochemical Genetics Laboratory Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine Rochester Minnesota

Center for Child and Adolescent Medicine Department University of Heidelberg Heidelberg Germany

Center for Human Genetics KU Leuven Leuven Belgium

Center for Integrative Brain Research Seattle Children's Research Institute Seattle Washington

Centro de Genética Médica Doutor Jacinto Magalhães Unidade de Bioquímica Genética Porto Portugal

Centro de Referência Doenças Hereditárias do Metabolismo Centro Hospitalar do Porto Porto Portugal

Child Neurology and Psychiatry Unit Department of Clinical and Experimental Medicine University of Catania Catania Italy

Departamento de Bioquímica Biología Molecular B e Inmunología Faculty of Medicine IMIB University of Murcia Murcia Spain

Department of Clinical Genetics Institute of Clinical Medicine University of Tartu Tartu Estonia

Department of Clinical Genomics Mayo Clinic Rochester New York

Department of Development and Regeneration KU Leuven Leuven Belgium

Department of Gastroenterology Hepatology and Metabolic Center University Hospitals Leuven Leuven Belgium

Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia

Department of Human Genetics KU Leuven Leuven Belgium

Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

Department of Inborn Errors of Metabolism and Paediatrics the Institute of Mother and Child Warsaw Poland

Department of Medical Genetic King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

Department of Medical Genetic Montréal Children's Hospital Montréal Québec Canada

Department of Metabolic Medicine The Lady Cilento Children's Hospital Brisbane Queensland Australia

Department of Metabolic Medicine The Royal Children's Hospital Melbourne Melbourne Victoria Australia

Department of Obstetrics and Gynecology Division of Neonatology University of Pécs Pecs Hungary

Department of Paediatric Endocrinology and Diabetology Jessa Hospital Hasselt Belgium

Department of Paediatric Endocrinology Gynaecology and Diabetology AP HP Necker Enfants Malades Hospital IMAGINE Institute affiliate Paris France

Department of Paediatrics and Adolescent Medicine 1st Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

Department of Paediatrics and Metabolic Center University Hospitals Leuven Leuven Belgium

Department of Pediatrics Tulane University New Orleans Louisiana

Department of Pediatrics University of Tartu Tartu Estonia

Division of Child and Adolescent Neurology Department of Medical Genetics Mayo Clinic Children's Center Rochester New York

Division of Child and Adolescent Neurology Department of Neurology Mayo Clinic Children's Center Rochester New York

Division of Child and Adolescent Neurology Department of Pediatrics Mayo Clinic Children's Center Rochester New York

Division of Genetic Medicine Department of Pediatrics University of Washington School of Medicine Seattle Washington

Division of Genetics and Metabolism Children's National Health System Washington District of Columbia

Genetics and Molecular Medicine and Rare Disease Paediatric Unit Sant Joan de Déu Hospital Barcelona Spain

Hepatologie prdiatrique department Paris Descartes University Paris France

INSERM U1176 Université Paris Sud CHU de Bicêtre Le Kremlin Bicêtre France

LIA GLYCOLAB4CDG (International Associated Laboratory Laboratory for the Research on Congenital Disorders of Glycosylation from Cellular Mechanisms to Cure France Belgium

Metabolic and Genetic department Sarem Woman's Hospital Tehrān Iran

Metabolic Unit Great Ormond Street Hospital and Institute of Child Health University College London NHS Trust London UK

National Human Genome Research Institute National Institutes of Health Bethesda Maryland

Neonatal Research Center Shiraz University of Medical Sciences Shiraz Iran

Neurologie pédiatrique et maladies métaboliques Pôle de pédiatrie médicale CHU Hôpital Robert Debré Paris France

Neurology Department Hospital Sant Joan de Déu U 703 Centre for Biomedical Research on Rare Diseases Instituto de Salud Carlos 3 Barcelona Spain

Portuguese Association for Congenital Disorders of Glycosylation Departamento Ciências da Vida Faculdade de Ciências e Tecnologia Universidade NOVA de Lisboa Caparica Portugal

Professionals and Patient Associations International Network Departament o Ciências da Vida Faculdade de Ciências e Tecnologia Universidade NOVA de Lisboa Caparica Portugal

Reference Center of Inherited Metabolic Diseases University Paris Descartes Hospital Necker Enfants Malades Paris France

Sanford Children's Health Research Center Sanford Burnham Prebys Medical Discovery Institute La Jolla California

Schools of Medicine University of Queensland Brisbane Griffith University Gold Coast Southport Queensland Australia

Secció d'Errors Congènits del Metabolisme IBC Servei de Bioquímica i Genètica Molecular Hospital Clínic IDIBAPS CIBERER Barcelona Spain

Servicio de Hematología y Oncología Médica Hospital Universitario Morales Meseguer Centro Regional de Hemodonación Universidad de Murcia IMIB Arrixaca CIBERER Murcia Spain

Servicio de Hematologíay Oncología Médica Hospital Universitario Morales Meseguer Centro Regional de Hemodonación Universidad de Murcia IMIB Arrixaca CIBERER Murcia Spain

UCIBIO Departamento Ciências da Vida Faculdade de Ciências e Tecnologia Universidade NOVA de Lisboa Caparica Caparica Portugal

Erratum v

J Inherit Metab Dis. 2019 May;42(3):577. doi: 10.1002/jimd.12082. PubMed

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