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

Journal Contribution - Journal Article

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.
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
ISSN: 0141-8955
Issue: 1
Volume: s44
Pages: 148 - 163
Publication year:2021
BOF-keylabel:yes
IOF-keylabel:yes
BOF-publication weight:1
CSS-citation score:3
Authors:International
Authors from:Government, Higher Education
Accessibility:Open