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

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations


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 languageEnglish (US)
Pages (from-to)148-163
Number of pages16
JournalJournal of inherited metabolic disease
Issue number1
StatePublished - Jan 2021


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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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