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

J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15.

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.

Publication types

  • Practice Guideline
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Cardiomyopathies / complications
  • Cardiomyopathies / pathology
  • Cleft Palate / complications
  • Cleft Palate / pathology
  • Consensus
  • Disease Management*
  • Galactose / therapeutic use*
  • Glycogen Storage Disease / complications
  • Glycogen Storage Disease / diagnosis*
  • Glycogen Storage Disease / drug therapy*
  • Glycogen Storage Disease / enzymology
  • Humans
  • Hypoglycemia / complications
  • Infant
  • International Cooperation
  • Muscular Diseases / complications
  • Muscular Diseases / pathology

Substances

  • Galactose

Supplementary concepts

  • Glycogen Storage Disease XIV