Article
Multiple phenotypes in phosphoglucomutase 1 deficiency.
The New England journal of medicine - 6 Feb 2014
Tegtmeyer Laura C, Rust Stephan, van Scherpenzeel Monique, Ng Bobby G, Losfeld Marie-Estelle, Timal Sharita, Raymond Kimiyo, He Ping, Ichikawa Mie, Veltman Joris, Huijben Karin, Shin Yoon S, Sharma Vandana, Adamowicz Maciej, Lammens Martin, Reunert Janine, Witten Anika, Schrapers Esther, Matthijs Gert, Jaeken Jaak, Rymen Daisy, Stojkovic Tanya, Laforêt Pascal, Petit François, Aumaître Olivier, Czarnowska Elzbieta, Piraud Monique, Podskarbi Teodor, Stanley Charles A, Matalon Reuben, Burda Patricie, Seyyedi Soraya, Debus Volker, Socha Piotr, Sykut-Cegielska Jolanta, van Spronsen Francjan, de Meirleir Linda, Vajro Pietro, DeClue Terry, Ficicioglu Can, Wada Yoshinao, Wevers Ron A, Vanderschaeghe Dieter, Callewaert Nico, Fingerhut Ralph, van Schaftingen Emile, Freeze Hudson H, Morava Eva, Lefeber Dirk J, Marquardt Thorsten
Abstract excerpt
BACKGROUND: 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...
Topics
- Galactose
- Genes, Recessive
- Glucose
- Glucosephosphates
- Glycogen Storage Disease