International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
d-galactose
PGM1-CDG
congenital disorder of glycosylation
management guidelines
phosphoglucomutase 1 deficiency
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
20
04
2020
revised:
07
07
2020
accepted:
14
07
2020
pubmed:
19
7
2020
medline:
24
12
2021
entrez:
19
7
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32681750
doi: 10.1002/jimd.12286
pmc: PMC7855268
mid: NIHMS1636831
doi:
Substances chimiques
Galactose
X2RN3Q8DNE
Types de publication
Journal Article
Practice Guideline
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
148-163Subventions
Organisme : NINDS NIH HHS
ID : U54 NS115198
Pays : United States
Informations de copyright
© 2020 SSIEM.
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