Multiple phenotypes in phosphoglucomutase 1 deficiency.

Tegtmeyer, Laura C;Rust, Stephan;van Scherpenzeel, Monique;Ng, Bobby G;Marquardt, Thorsten;et.al.
(2014) New England Journal of Medicine — Vol. 370, n° 6, p. 533-542 (2014)

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Authors
  • Tegtmeyer, Laura C
    Author
  • Rust, Stephan
    Author
  • van Scherpenzeel, Monique
    Author
  • Ng, Bobby G
    Author
  • Van Schaftingen, EmileUCLouvain
    Author
  • Marquardt, Thorsten
    Author
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Abstract
Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.
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Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., Sharma, V., Adamowicz, M., Lammens, M., Reunert, J., Witten, A., Schrapers, E., Matthijs, G., et al. (2014). Multiple phenotypes in phosphoglucomutase 1 deficiency. New England Journal of Medicine, 370(6), 533-542. https://doi.org/10.1056/NEJMoa1206605 (Original work published 2014)