PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
- Author
- Renate Zeevaert, Emmanuel Scalais, Laura Muiño Mosquera (UGent) , Linda De Meirleir, Carine De Beaufort, Michael Witsch, Jaak Jaeken and Jean De Schepper (UGent)
- Organization
- Abstract
- Objective and importance: Phosphoglucomutase 1 (PGM1) deficiency, first described as a glycogenosis (type XIV) is also a congenital disorder of glycosylation (CDG). We want to illustrate the wide clinical spectrum of PGM1 deficiency and in particular the associated disturbance in glucose metabolism and the endocrine dysfunction. Treatment with d-galactose is experimental. Case presentation: PGM1 deficiency was diagnosed in an 8-year-old boy, who was referred because of an unexplained complex syndrome, including recurrent hypoglycaemia and low IGF-1 mediated growth failure. Conclusion: The timely diagnosis of this disorder is particularly important, because d-galactose treatment can improve the latter symptoms.
- Keywords
- CDG, PGM1, Glycosylation, Hypoglycaemia, Growth failure, CONGENITAL DISORDERS, GLYCOSYLATION
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-7052494
- MLA
- Zeevaert, Renate, et al. “PGM1 Deficiency Diagnosed during an Endocrine Work-up of Low IGF-1 Mediated Growth Failure.” ACTA CLINICA BELGICA, vol. 71, no. 6, 2016, pp. 435–37, doi:10.1080/17843286.2016.1142043.
- APA
- Zeevaert, R., Scalais, E., Muiño Mosquera, L., De Meirleir, L., De Beaufort, C., Witsch, M., … De Schepper, J. (2016). PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure. ACTA CLINICA BELGICA, 71(6), 435–437. https://doi.org/10.1080/17843286.2016.1142043
- Chicago author-date
- Zeevaert, Renate, Emmanuel Scalais, Laura Muiño Mosquera, Linda De Meirleir, Carine De Beaufort, Michael Witsch, Jaak Jaeken, and Jean De Schepper. 2016. “PGM1 Deficiency Diagnosed during an Endocrine Work-up of Low IGF-1 Mediated Growth Failure.” ACTA CLINICA BELGICA 71 (6): 435–37. https://doi.org/10.1080/17843286.2016.1142043.
- Chicago author-date (all authors)
- Zeevaert, Renate, Emmanuel Scalais, Laura Muiño Mosquera, Linda De Meirleir, Carine De Beaufort, Michael Witsch, Jaak Jaeken, and Jean De Schepper. 2016. “PGM1 Deficiency Diagnosed during an Endocrine Work-up of Low IGF-1 Mediated Growth Failure.” ACTA CLINICA BELGICA 71 (6): 435–437. doi:10.1080/17843286.2016.1142043.
- Vancouver
- 1.Zeevaert R, Scalais E, Muiño Mosquera L, De Meirleir L, De Beaufort C, Witsch M, et al. PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure. ACTA CLINICA BELGICA. 2016;71(6):435–7.
- IEEE
- [1]R. Zeevaert et al., “PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure,” ACTA CLINICA BELGICA, vol. 71, no. 6, pp. 435–437, 2016.
@article{7052494, abstract = {{Objective and importance: Phosphoglucomutase 1 (PGM1) deficiency, first described as a glycogenosis (type XIV) is also a congenital disorder of glycosylation (CDG). We want to illustrate the wide clinical spectrum of PGM1 deficiency and in particular the associated disturbance in glucose metabolism and the endocrine dysfunction. Treatment with d-galactose is experimental. Case presentation: PGM1 deficiency was diagnosed in an 8-year-old boy, who was referred because of an unexplained complex syndrome, including recurrent hypoglycaemia and low IGF-1 mediated growth failure. Conclusion: The timely diagnosis of this disorder is particularly important, because d-galactose treatment can improve the latter symptoms.}}, author = {{Zeevaert, Renate and Scalais, Emmanuel and Muiño Mosquera, Laura and De Meirleir, Linda and De Beaufort, Carine and Witsch, Michael and Jaeken, Jaak and De Schepper, Jean}}, issn = {{1784-3286}}, journal = {{ACTA CLINICA BELGICA}}, keywords = {{CDG,PGM1,Glycosylation,Hypoglycaemia,Growth failure,CONGENITAL DISORDERS,GLYCOSYLATION}}, language = {{eng}}, number = {{6}}, pages = {{435--437}}, title = {{PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure}}, url = {{http://doi.org/10.1080/17843286.2016.1142043}}, volume = {{71}}, year = {{2016}}, }
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