Citations 2
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Moravej, Hossein , Altassan, Ruqaiah , Jaeken, Jaak , Enns, Gregory M. , Ellaway, Carolyn , Balasubramaniam, Shanti , Lonlay, Pascale de , Coman, David , Mercimek‐Andrews, Saadet , Morava, Eva , Witters, Peter , Morava, Éva
JIMD Reports | November 25, 2019 | Volume: 51 | Issue: 1 | Pages: 76-81
Abstract Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG. The frequency and etiology of hypoglycemia in PMM2‐CDG are not well studied. Methods We conducted a systematic review of the literature on genetically and/or biochemically confirmed PMM2‐CDG patients who developed hypoglycemia. Prospective follow‐up information on the patients who received diazoxide therapy was collected and evaluated. Results A total of 165 peer‐reviewed articles reporting on 933 PMM2‐CDG patients were assessed. Hypoglycemia was specifically mentioned only in 23 of these patients (2.5%). Hyperinsulinism was identified in 10 patients (43% of all hypoglycemic patients). Among these 10 patients, seven were successfully treated with diazoxide. However, most patients remained on therapy longer than a year to stay free of hypoglycemia. Conclusion Hypoglycemia is a rarely reported finding in patients with PMM2‐CDG. Diazoxide‐responsive hyperinsulinism was found to have a good prognosis on medication in our PMM2‐CDG patients with hypoglycemia. No genotype‐phenotype correlation was observed with respect to hyperinsulinism. A prospective study should be undertaken to explore the hypothesis that hypoglycemia is underdiagnosed in PMM2‐CDG and to evaluate whether hyperinsulinism is always associated with hypoglycemia.
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
Altassan, Ruqaiah , Péanne, Romain , Jaeken, Jaak , Barone, Rita , Bidet, Muad, Borgel, Delphine , Brasil, Sandra , Cassiman, David , Čechová, Anna , Coman, David , Corral, Javier , Correia, Joana , Lonlay, Pascale de , Reis, Vanessa dos , Fiumara, Agata , Francisco, Rita , Funke, Simone, Gardeitchik, Thatjana , Matthijs, Gert , Girad, Muriel, Grünewald, Stephanie , Hernández‐Caselles, Trinidad , Hutter, Marlen, Krasnewich, Donna M., Lam, Christina , Lefeber, Dirk J. , Marques‐da‐Silva, Dorinda , Martínez‐Monseny, Antonio Federico , Moravej, Hossein , Õunap, Katrin , Pascoal, Carlota , Pascreau, Tiffany , Quelhas, Dulce , Raymond, Kimiyo , Sarkhail, Peymaneh, Schiff, Manuel , Seroczyńska, Małgorzata, Serrano, Mercedes , Séta, Nathalie , Sykut‐Cegielska, Jolanta , Thiel, Christian , Tort, Federic, Vals, Mari‐Anne , Videira, Paula A. , Zeevaert, Renate , Tort, Frederic , Patterson, Marc, Pascoal, Carlota , Videira, Paula A , Õunap, Katrin , Morena‐Barrio, María Eugenia de la , Ferreira, Carlos R , Freeze, Hudson H. , Girós, Marisa , Honzík, Tomáš , Lee, Joy Li-Yueh , Patterson, Marc C. , Witters, Peter , Morava, Éva
Journal of Inherited Metabolic Disease | February 11, 2019 | Volume: 42 | Issue: 1 | Pages: 5-28
Abstract Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2‐CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2‐CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence‐based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2‐CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2‐CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2‐CDG patients.