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

Ruqaiah Altassan; Silvia Radenkovic; Andrew C. Edmondson; Rita Barone; Sandra Brasil; Anna Cechova; David Coman; Sarah Donoghue; Kristina Falkenstein; Vanessa Ferreira; Carlos Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Stephanie Grunewald; Tomas Honzik; Jaak Jaeken; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques-da-Silva; Carlota Pascoal; Dulce Quelhas; Kimiyo M. Raymond; Daisy Rymen; Malgorzata Seroczynska; Mercedes Serrano; Jolanta Sykut-Cegielska; Christian Thiel; Frederic Tort; Mari Anne Vals; Paula Videira; Nicol Voermans; Peter Witters; Eva Morava

doi:10.1002/jimd.12286

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

Ruqaiah Altassan, Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Cechova, David Coman, Sarah Donoghue, Kristina Falkenstein, Vanessa Ferreira, Carlos Ferreira, Agata Fiumara, Rita Francisco, Hudson Freeze, Stephanie Grunewald, Tomas Honzik, Jaak Jaeken, Donna Krasnewich, Christina Lam, Joy LeeDirk Lefeber, Dorinda Marques-da-Silva, Carlota Pascoal, Dulce Quelhas, Kimiyo M. Raymond, Daisy Rymen, Malgorzata Seroczynska, Mercedes Serrano, Jolanta Sykut-Cegielska, Christian Thiel, Frederic Tort, Mari Anne Vals, Paula Videira, Nicol Voermans, Peter Witters, Eva Morava^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

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.

Original language	English
Pages (from-to)	148-163
Number of pages	16
Journal	Journal of Inherited Metabolic Disease
Volume	44
Issue number	1
DOIs	https://doi.org/10.1002/jimd.12286
Publication status	Published - Jan 2021
Externally published	Yes

Keywords

congenital disorder of glycosylation
d-galactose
management guidelines
PGM1-CDG
phosphoglucomutase 1 deficiency

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10.1002/jimd.12286

Cite this

Altassan, R., Radenkovic, S., Edmondson, A. C., Barone, R., Brasil, S., Cechova, A., Coman, D., Donoghue, S., Falkenstein, K., Ferreira, V., Ferreira, C., Fiumara, A., Francisco, R., Freeze, H., Grunewald, S., Honzik, T., Jaeken, J., Krasnewich, D., Lam, C., ... Morava, E. (2021). International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. Journal of Inherited Metabolic Disease, 44(1), 148-163. https://doi.org/10.1002/jimd.12286

@article{d19c7f4e32c447869d9ea07b91887213,

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

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 = "congenital disorder of glycosylation, d-galactose, management guidelines, PGM1-CDG, phosphoglucomutase 1 deficiency",

author = "Ruqaiah Altassan and Silvia Radenkovic and Edmondson, {Andrew C.} and Rita Barone and Sandra Brasil and Anna Cechova and David Coman and Sarah Donoghue and Kristina Falkenstein and Vanessa Ferreira and Carlos Ferreira and Agata Fiumara and Rita Francisco and Hudson Freeze and Stephanie Grunewald and Tomas Honzik and Jaak Jaeken and Donna Krasnewich and Christina Lam and Joy Lee and Dirk Lefeber and Dorinda Marques-da-Silva and Carlota Pascoal and Dulce Quelhas and Raymond, {Kimiyo M.} and Daisy Rymen and Malgorzata Seroczynska and Mercedes Serrano and Jolanta Sykut-Cegielska and Christian Thiel and Frederic Tort and Vals, {Mari Anne} and Paula Videira and Nicol Voermans and Peter Witters and Eva Morava",

note = "Publisher Copyright: {\textcopyright} 2020 SSIEM",

year = "2021",

month = jan,

doi = "10.1002/jimd.12286",

language = "English",

volume = "44",

pages = "148--163",

journal = "Journal of Inherited Metabolic Disease",

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Altassan, R, Radenkovic, S, Edmondson, AC, Barone, R, Brasil, S, Cechova, A, Coman, D, Donoghue, S, Falkenstein, K, Ferreira, V, Ferreira, C, Fiumara, A, Francisco, R, Freeze, H, Grunewald, S, Honzik, T, Jaeken, J, Krasnewich, D, Lam, C, Lee, J, Lefeber, D, Marques-da-Silva, D, Pascoal, C, Quelhas, D, Raymond, KM, Rymen, D, Seroczynska, M, Serrano, M, Sykut-Cegielska, J, Thiel, C, Tort, F, Vals, MA, Videira, P, Voermans, N, Witters, P & Morava, E 2021, 'International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management', Journal of Inherited Metabolic Disease, vol. 44, no. 1, pp. 148-163. https://doi.org/10.1002/jimd.12286

TY - JOUR

T1 - International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)

T2 - Diagnosis, follow-up, and management

AU - Altassan, Ruqaiah

AU - Radenkovic, Silvia

AU - Edmondson, Andrew C.

AU - Barone, Rita

AU - Brasil, Sandra

AU - Cechova, Anna

AU - Coman, David

AU - Donoghue, Sarah

AU - Falkenstein, Kristina

AU - Ferreira, Vanessa

AU - Ferreira, Carlos

AU - Fiumara, Agata

AU - Francisco, Rita

AU - Freeze, Hudson

AU - Grunewald, Stephanie

AU - Honzik, Tomas

AU - Jaeken, Jaak

AU - Krasnewich, Donna

AU - Lam, Christina

AU - Lee, Joy

AU - Lefeber, Dirk

AU - Marques-da-Silva, Dorinda

AU - Pascoal, Carlota

AU - Quelhas, Dulce

AU - Raymond, Kimiyo M.

AU - Rymen, Daisy

AU - Seroczynska, Malgorzata

AU - Serrano, Mercedes

AU - Sykut-Cegielska, Jolanta

AU - Thiel, Christian

AU - Tort, Frederic

AU - Vals, Mari Anne

AU - Videira, Paula

AU - Voermans, Nicol

AU - Witters, Peter

AU - Morava, Eva

PY - 2021/1

Y1 - 2021/1

N2 - 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.

AB - 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.

KW - congenital disorder of glycosylation

KW - d-galactose

KW - management guidelines

KW - PGM1-CDG

KW - phosphoglucomutase 1 deficiency

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U2 - 10.1002/jimd.12286

DO - 10.1002/jimd.12286

M3 - Review article

C2 - 32681750

AN - SCOPUS:85090962557

SN - 0141-8955

VL - 44

SP - 148

EP - 163

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 1

ER -

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

Abstract

Keywords

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