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

    Author(s)
    Altassan, R
    Radenkovic, S
    Edmondson, AC
    Barone, R
    Brasil, S
    Cechova, A
    Coman, D
    Donoghue, S
    Falkenstein, K
    Ferreira, V
    Ferreira, C
    Fiumara, A
    Francisco, R
    Freeze, H
    et al.
    Griffith University Author(s)
    Coman, Dave J.
    Year published
    2020
    Metadata
    Show full item record
    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 ...
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    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.
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    Journal Title
    Journal of Inherited Metabolic Disease
    DOI
    https://doi.org/10.1002/jimd.12286
    Subject
    Clinical sciences
    d-galactose
    PGM1-CDG
    congenital disorder of glycosylation
    management guidelines
    phosphoglucomutase 1 deficiency
    Publication URI
    http://hdl.handle.net/10072/398154
    Collection
    • Journal articles

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