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Multiple phenotypes in phosphoglucomutase 1 deficiency. 2014
Laura C Tegtmeyer, and
Stephan Rust, and
Monique van Scherpenzeel, and
Bobby G Ng, and
Marie-Estelle Losfeld, and
Sharita Timal, and
Kimiyo Raymond, and
Ping He, and
Mie Ichikawa, and
Joris Veltman, and
Karin Huijben, and
Yoon S Shin, and
Vandana Sharma, and
Maciej Adamowicz, and
Martin Lammens, and
Janine Reunert, and
Anika Witten, and
Esther Schrapers, and
Gert Matthijs, and
Jaak Jaeken, and
Daisy Rymen, and
Tanya Stojkovic, and
Pascal Laforêt, and
François Petit, and
Olivier Aumaître, and
Elzbieta Czarnowska, and
Monique Piraud, and
Teodor Podskarbi, and
Charles A Stanley, and
Reuben Matalon, and
Patricie Burda, and
Soraya Seyyedi, and
Volker Debus, and
Piotr Socha, and
Jolanta Sykut-Cegielska, and
Francjan van Spronsen, and
Linda de Meirleir, and
Pietro Vajro, and
Terry DeClue, and
Can Ficicioglu, and
Yoshinao Wada, and
Ron A Wevers, and
Dieter Vanderschaeghe, and
Nico Callewaert, and
Ralph Fingerhut, and
Emile van Schaftingen, and
Hudson H Freeze, and
Eva Morava, and
Dirk J Lefeber, and
Thorsten Marquardt
The authors' affiliations are listed in the Appendix.
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 arrest. METHODS Homozygosity mapping followed by whole-exome sequencing was used to identify a mutation in the gene for phosphoglucomutase 1 (PGM1) in two siblings. Sequencing identified additional mutations in 15 other families. Phosphoglucomutase 1 enzyme activity was assayed on cell extracts. Analyses of glycosylation efficiency and quantitative studies of sugar metabolites were performed. Galactose supplementation in fibroblast cultures and dietary supplementation in the patients were studied to determine the effect on glycosylation. RESULTS Phosphoglucomutase 1 enzyme activity was markedly diminished in all patients. Mass spectrometry of transferrin showed a loss of complete N-glycans and the presence of truncated glycans lacking galactose. Fibroblasts supplemented with galactose showed restoration of protein glycosylation and no evidence of glycogen accumulation. Dietary supplementation with galactose in six patients resulted in changes suggestive of clinical improvement. A new screening test showed good discrimination between patients and controls. CONCLUSIONS Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. Supplementation with galactose leads to biochemical improvement in indexes of glycosylation in cells and patients, and supplementation with complex carbohydrates stabilizes blood glucose. A new screening test has been developed but has not yet been validated. (Funded by the Netherlands Organization for Scientific Research and others.).
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Can Ficicioglu, and
Yoshinao Wada, and
Ron A Wevers, and
Dieter Vanderschaeghe, and
Nico Callewaert, and
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The Israel Medical Association journal : IMAJ,
