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,
• MeSH
• Adult MeSH
• Galactose therapeutic use   MeSH
• Glycogen Storage Disease complications   diagnosis   drug therapy   enzymology   MeSH
• Hypoglycemia complications   MeSH
• Cardiomyopathies complications   pathology   MeSH
• Infant MeSH
• Consensus MeSH
• Humans MeSH
• Disease Management * MeSH
• International Cooperation MeSH
• Muscular Diseases complications   pathology   MeSH
• Cleft Palate complications   pathology   MeSH
• Check Tag
• Adult MeSH
• Infant MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH
• Research Support, N.I.H., Extramural MeSH
• Practice Guideline MeSH
• Names of Substances
• Galactose MeSH