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

Ruqaiah Altassan^{1

2}, Romain Péanne^{3

4}, Jaak Jaeken³, Rita Barone⁵, Muad Bidet⁶, Delphine Borgel⁷, Sandra Brasil^{8

9}, David Cassiman¹⁰, Anna Cechova¹¹, David Coman^{12

13}, Javier Corral¹⁴, Joana Correia¹⁵, María Eugenia de la Morena-Barrio¹⁶, Pascale de Lonlay¹⁷, Vanessa Dos Reis⁸, Carlos R Ferreira^{18

19}, Agata Fiumara⁵, Rita Francisco^{8

9

20}, Hudson Freeze²¹, Simone Funke²², Thatjana Gardeitchik²³, Matthijs Gert^{4

24}, Muriel Girad^{25

26}, Marisa Giros²⁷, Stephanie Grünewald²⁸, Trinidad Hernández-Caselles²⁹, Tomas Honzik¹¹, Marlen Hutter³⁰, Donna Krasnewich¹⁸, Christina Lam^{31

32}, Joy Lee³³, Dirk Lefeber²³, Dorinda Marques-de-Silva^{9

20}, Antonio F Martinez³⁴, Hossein Moravej³⁵, Katrin Õunap^{36

37}, Carlota Pascoal^{8

9}, Tiffany Pascreau³⁸, Marc Patterson^{39

40

41}, Dulce Quelhas^{14

42}, Kimiyo Raymond⁴³, Peymaneh Sarkhail⁴⁴, Manuel Schiff⁴⁵, Małgorzata Seroczyńska²⁹, Mercedes Serrano⁴⁶, Nathalie Seta⁴⁷, Jolanta Sykut-Cegielska⁴⁸, Christian Thiel³⁰, Federic Tort²⁷, Mari-Anne Vals⁴⁹, Paula Videira²⁰, Peter Witters^{50

51}, Renate Zeevaert⁵², Eva Morava^{53

54}

Affiliations

¹ Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.
² Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
³ Department of Human Genetics, KU Leuven, Leuven, Belgium.
⁴ LIA GLYCOLAB4CDG (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure", France/ Belgium.
⁵ Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
⁶ Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France.
⁷ INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France.
⁸ Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
⁹ 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.
¹⁰ Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
¹¹ Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
¹² Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
¹³ Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Southport, Queensland, Australia.
¹⁴ Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.
¹⁵ Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal.
¹⁶ Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.
¹⁷ Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France.
¹⁸ National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
¹⁹ Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
²⁰ UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.
²¹ Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California.
²² Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary.
²³ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
²⁴ Center for Human Genetics, KU Leuven, Leuven, Belgium.
²⁵ AP-HP, Necker University Hospital, Hepatology and Gastroenterology Unit, French National Reference Centre for Biliary Atresia and Genetic Cholestasis, Paris, France.
²⁶ Hepatologie prdiatrique department, Paris Descartes University, Paris, France.
²⁷ Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
²⁸ Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.
²⁹ Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain.
³⁰ Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.
³¹ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
³² Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
³³ Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
³⁴ Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain.
³⁵ Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
³⁶ Department of Pediatrics, University of Tartu, Tartu, Estonia.
³⁷ Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
³⁸ AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France.
³⁹ Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic Children's Center, Rochester, New York.
⁴⁰ Division of Child and Adolescent Neurology, Department of Pediatrics, Mayo Clinic Children's Center, Rochester, New York.
⁴¹ Division of Child and Adolescent Neurology, Department of Medical Genetics, Mayo Clinic Children's Center, Rochester, New York.
⁴² Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal.
⁴³ Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota.
⁴⁴ Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran.
⁴⁵ Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France.
⁴⁶ 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.
⁴⁷ AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France.
⁴⁸ Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.
⁴⁹ Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
⁵⁰ Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
⁵¹ Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
⁵² Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium.
⁵³ Department of Clinical Genomics, Mayo Clinic, Rochester, New York.
⁵⁴ Department of Pediatrics, Tulane University, New Orleans, Louisiana.

PMID: 30740725
DOI: 10.1002/jimd.12024

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

Ruqaiah Altassan et al. J Inherit Metab Dis. 2019 Jan.

. 2019 Jan;42(1):5-28.

doi: 10.1002/jimd.12024.

Authors

Affiliations

¹ Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.
² Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
³ Department of Human Genetics, KU Leuven, Leuven, Belgium.
⁴ LIA GLYCOLAB4CDG (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure", France/ Belgium.
⁵ Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
⁶ Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France.
⁷ INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France.
⁸ Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
⁹ 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.
¹⁰ Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
¹¹ Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
¹² Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
¹³ Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Southport, Queensland, Australia.
¹⁴ Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.
¹⁵ Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal.
¹⁶ Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.
¹⁷ Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France.
¹⁸ National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
¹⁹ Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
²⁰ UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.
²¹ Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California.
²² Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary.
²³ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
²⁴ Center for Human Genetics, KU Leuven, Leuven, Belgium.
²⁵ AP-HP, Necker University Hospital, Hepatology and Gastroenterology Unit, French National Reference Centre for Biliary Atresia and Genetic Cholestasis, Paris, France.
²⁶ Hepatologie prdiatrique department, Paris Descartes University, Paris, France.
²⁷ Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
²⁸ Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.
²⁹ Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain.
³⁰ Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.
³¹ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
³² Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
³³ Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
³⁴ Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain.
³⁵ Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
³⁶ Department of Pediatrics, University of Tartu, Tartu, Estonia.
³⁷ Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
³⁸ AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France.
³⁹ Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic Children's Center, Rochester, New York.
⁴⁰ Division of Child and Adolescent Neurology, Department of Pediatrics, Mayo Clinic Children's Center, Rochester, New York.
⁴¹ Division of Child and Adolescent Neurology, Department of Medical Genetics, Mayo Clinic Children's Center, Rochester, New York.
⁴² Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal.
⁴³ Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota.
⁴⁴ Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran.
⁴⁵ Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France.
⁴⁶ 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.
⁴⁷ AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France.
⁴⁸ Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.
⁴⁹ Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
⁵⁰ Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
⁵¹ Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
⁵² Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium.
⁵³ Department of Clinical Genomics, Mayo Clinic, Rochester, New York.
⁵⁴ Department of Pediatrics, Tulane University, New Orleans, Louisiana.

PMID: 30740725
DOI: 10.1002/jimd.12024

Erratum in

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
[No authors listed] [No authors listed] J Inherit Metab Dis. 2019 May;42(3):577. doi: 10.1002/jimd.12082. J Inherit Metab Dis. 2019. PMID: 31021452 No abstract available.

Abstract

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.

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

Affiliations

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

Authors

Affiliations

Erratum in

Abstract

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MeSH terms

Substances

Supplementary concepts

LinkOut - more resources

Full Text Sources