International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Congenital Disorders of Glycosylation / diagnosis Follow-Up Studies Glycosylation Humans Phosphotransferases (Phosphomutases) / deficiency

Journal

Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918

Informations de publication

Date de publication:
01 2019
Historique:
entrez: 12 2 2019
pubmed: 12 2 2019
medline: 2 4 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1002/jimd.12024 PMID: 30740725
pubmed: 30740725
doi: 10.1002/jimd.12024
doi:

Substances chimiques

Phosphotransferases (Phosphomutases) EC 5.4.2.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't Systematic Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

5-28

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© 2019 SSIEM.

Auteurs

Ruqaiah Altassan (R)

Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.
Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Romain Péanne (R)

Department of Human Genetics, KU Leuven, Leuven, Belgium.
LIA GLYCOLAB4CDG (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure", France/ Belgium.

Jaak Jaeken (J)

Department of Human Genetics, KU Leuven, Leuven, Belgium.

Rita Barone (R)

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

Muad Bidet (M)

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

Delphine Borgel (D)

INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France.

Sandra Brasil (S)

Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.

David Cassiman (D)

Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

Anna Cechova (A)

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

David Coman (D)

Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Southport, Queensland, Australia.

Javier Corral (J)

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

Joana Correia (J)

Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal.

María Eugenia de la Morena-Barrio (ME)

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

Pascale de Lonlay (P)

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

Vanessa Dos Reis (V)

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

Carlos R Ferreira (CR)

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.

Agata Fiumara (A)

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

Rita Francisco (R)

Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.

Hudson Freeze (H)

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

Simone Funke (S)

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

Thatjana Gardeitchik (T)

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Matthijs Gert (M)

LIA GLYCOLAB4CDG (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure", France/ Belgium.
Center for Human Genetics, KU Leuven, Leuven, Belgium.

Muriel Girad (M)

AP-HP, Necker University Hospital, Hepatology and Gastroenterology Unit, French National Reference Centre for Biliary Atresia and Genetic Cholestasis, Paris, France.
Hepatologie prdiatrique department, Paris Descartes University, Paris, France.

Marisa Giros (M)

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

Stephanie Grünewald (S)

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

Trinidad Hernández-Caselles (T)

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

Tomas Honzik (T)

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Marlen Hutter (M)

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

Donna Krasnewich (D)

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Christina Lam (C)

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

Joy Lee (J)

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

Dirk Lefeber (D)

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Dorinda Marques-de-Silva (D)

Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.

Antonio F Martinez (AF)

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

Hossein Moravej (H)

Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Katrin Õunap (K)

Department of Pediatrics, University of Tartu, Tartu, Estonia.
Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Carlota Pascoal (C)

Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.

Tiffany Pascreau (T)

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

Marc Patterson (M)

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

Dulce Quelhas (D)

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.
Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal.

Kimiyo Raymond (K)

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

Peymaneh Sarkhail (P)

Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran.

Manuel Schiff (M)

Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France.

Małgorzata Seroczyńska (M)

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

Mercedes Serrano (M)

Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

Nathalie Seta (N)

AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France.

Jolanta Sykut-Cegielska (J)

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

Christian Thiel (C)

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

Federic Tort (F)

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

Mari-Anne Vals (MA)

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

Paula Videira (P)

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

Peter Witters (P)

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

Renate Zeevaert (R)

Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium.

Eva Morava (E)

Department of Clinical Genomics, Mayo Clinic, Rochester, New York.
Department of Pediatrics, Tulane University, New Orleans, Louisiana.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme glucidique › Troubles congénitaux de la glycosylation › International clinical guidelines for the...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études de suivi › International clinical guidelines for the...
questionsmedicales.fr › Métabolisme › Métabolisme glucidique › Glycosylation › International clinical guidelines for the...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › International clinical guidelines for the...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Isomerases › Intramolecular transferases › Phosphotransferases phosphomutases › International clinical guidelines for the...