Review

. 2021 Jan;44(1):148-163.

doi: 10.1002/jimd.12286. Epub 2020 Sep 15.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Ruqaiah Altassan^{1

2}, Silvia Radenkovic^{3

4

5

6}, Andrew C Edmondson⁷, Rita Barone⁸, Sandra Brasil^{9

10

11}, Anna Cechova¹², David Coman¹³, Sarah Donoghue¹⁴, Kristina Falkenstein¹⁵, Vanessa Ferreira⁹, Carlos Ferreira¹⁶, Agata Fiumara⁸, Rita Francisco^{9

10

11}, Hudson Freeze¹⁷, Stephanie Grunewald¹⁸, Tomas Honzik¹², Jaak Jaeken¹⁹, Donna Krasnewich¹⁶, Christina Lam^{20

21}, Joy Lee¹⁴, Dirk Lefeber²², Dorinda Marques-da-Silva^{9

10

11}, Carlota Pascoal^{9

10

11}, Dulce Quelhas²³, Kimiyo M Raymond²⁴, Daisy Rymen²⁵, Malgorzata Seroczynska²⁶, Mercedes Serrano²⁷, Jolanta Sykut-Cegielska²⁶, Christian Thiel¹⁵, Frederic Tort²⁸, Mari-Anne Vals²⁹, Paula Videira^{10

11}, Nicol Voermans³⁰, Peter Witters^{25

31}, Eva Morava⁶

Affiliations

¹ Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
³ Metabolomics Expertise Center, Center for Cancer Biology, VIB, Leuven, Belgium.
⁴ Metabolomics Expertise Center, Department of Oncology, KU Leuven, Leuven, Belgium.
⁵ Laboratory of Hepatology, Department CHROMETA, KU Leuven, Leuven, Belgium.
⁶ Department of Clinical Genomics and Laboratory of Medical Pathology, Mayo Clinic, Rochester, Minnesota, USA.
⁷ Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
⁸ Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
⁹ Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.
¹⁰ UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Lisbon, Portugal.
¹¹ Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Lisbon, Portugal.
¹² Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
¹³ Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
¹⁴ Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.
¹⁵ Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.
¹⁶ National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
¹⁷ Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.
¹⁸ Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
¹⁹ Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
²⁰ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
²¹ Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
²² Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
²³ Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal.
²⁴ Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
²⁵ Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
²⁶ Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.
²⁷ 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.
²⁸ Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
²⁹ Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
³⁰ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
³¹ Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

PMID: 32681750
PMCID: PMC7855268
DOI: 10.1002/jimd.12286

Review

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Ruqaiah Altassan et al. J Inherit Metab Dis. 2021 Jan.

. 2021 Jan;44(1):148-163.

doi: 10.1002/jimd.12286. Epub 2020 Sep 15.

Authors

Affiliations

¹ Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
³ Metabolomics Expertise Center, Center for Cancer Biology, VIB, Leuven, Belgium.
⁴ Metabolomics Expertise Center, Department of Oncology, KU Leuven, Leuven, Belgium.
⁵ Laboratory of Hepatology, Department CHROMETA, KU Leuven, Leuven, Belgium.
⁶ Department of Clinical Genomics and Laboratory of Medical Pathology, Mayo Clinic, Rochester, Minnesota, USA.
⁷ Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
⁸ Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
⁹ Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal.
¹⁰ UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Lisbon, Portugal.
¹¹ Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Lisbon, Portugal.
¹² Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
¹³ Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
¹⁴ Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.
¹⁵ Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.
¹⁶ National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
¹⁷ Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.
¹⁸ Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
¹⁹ Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
²⁰ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
²¹ Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
²² Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
²³ Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal.
²⁴ Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
²⁵ Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
²⁶ Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.
²⁷ 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.
²⁸ Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
²⁹ Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
³⁰ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
³¹ Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

PMID: 32681750
PMCID: PMC7855268
DOI: 10.1002/jimd.12286

Abstract

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.

Keywords: d-galactose; PGM1-CDG; congenital disorder of glycosylation; management guidelines; phosphoglucomutase 1 deficiency.

PubMed Disclaimer

Conflict of interest statement

CONFLICT OF INTEREST

The authors declare that they have no conflicts of interest.

Figures

**FIGURE 1**
Most common laboratory findings in PGM1-CDG

See this image and copyright information in PMC

References

1. Thomson WHS, Maclaurin JC, Prineas JW. Skeletal muscle glycogenosis: an investigation of two similar cases. J Neurol Neurosurg Psychiatry. 1963;26:60–68. - PMC - PubMed
1. Sugie H, Kobayashi J, Sugie Y, et al. Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels. Neurology. 1988;38(4): 602–605. - PubMed
1. Tegtmeyer LC, Rust S, van Scherpenzeel M, et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014;370(6):533–542. - PMC - PubMed
1. Quick CB, Fisher RA, Harris H. A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3. Eur J Biochem. 1974;42(2):511–517. - PubMed
1. Stojkovic T, Vissing J, Petit F, et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med. 2009;361(4):425–427. - PubMed

Publication types

Actions
Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions

Supplementary concepts

Actions

Grants and funding

U54 NS115198/NS/NINDS NIH HHS/United States

LinkOut - more resources

Full Text Sources
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Affiliations

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources

Miscellaneous