Professionals and Patient Associations International Network (CDG & Allies-PPAIN)
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Contenu en anglais
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Professionals and Patient Associations International Network (CDG & Allies-PPAIN)
Contenu en anglais
Osler répond à partir de cette bibliothèque et cite la recommandation derrière chaque affirmation.
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.
Publiée par Journal of inherited metabolic disease, 2021. Le PDF est présenté tel que publié et reste l’œuvre de ses auteurs et de son éditeur ; l’original se trouve à la source indiquée ici. Les ayants droit peuvent nous demander de retirer un fichier à l’adresse info@prognia.nl.
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