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

doi:10.1002/jimd.12286

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.

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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

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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

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[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

[2] 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

[3] 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

[4] 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

[5] 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

[6] 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

[7] 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

[8] 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

[9] 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

[10] 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

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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

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