Citations 2
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
Donoghue, Sarah , White, Susan M. , Kowalski, Remi , Yaplito‐Lee, Joy , Donoghue, Sarah E , Tan, Tiong Yang , Morava, Éva
JIMD Reports | October 20, 2020 | Volume: 57 | Issue: 1 | Pages: 29-37
AbstractWe report a patient diagnosed with PGM1‐CDG at 11 years of age after two biallelic likely pathogenic variants in PGM1 were found on research genomic sequencing. To our knowledge, he is the first patient with PGM1‐CDG to be reported with a restrictive cardiomyopathy. Other clinical manifestations included cleft palate, asymptomatic elevated transaminases, intellectual disability and myopathy resulting in exercise intolerance. He was trialed on oral galactose therapy in increasing doses for 18 weeks to assess if there was any biochemical and clinical benefit. His galactose was continued for a further 9 months beyond the initial galactose treatment period due to improvements in exercise tolerance and myopathy. Treatment with galactose demonstrated an improvement in liver function and myopathy with improved exercise tolerance. Treatment with galactose for 15 months did not change heart function and exercise stress test results were stable.
International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
Altassan, Ruqaiah , Radenkovic, Silvia , Edmondson, Andrew C. , Barone, Rita , Brasil, Sandra , Čechová, Anna , Coman, David , Donoghue, Sarah , Falkenstein, Kristina , Ferreira, Vanessa dos Reis , Fiumara, Agata , Francisco, Rita , Grünewald, Stephanie , Jaeken, Jaak , Krasnewich, Donna M., Lam, Christina , Lefeber, Dirk J. , Marques‐da‐Silva, Dorinda , Pascoal, Carlota , Quelhas, Dulce , Raymond, Kimiyo , Rymen, Daisy , Seroczyńska, Małgorzata, Serrano, Mercedes , Thiel, Christian , Tort, Frederic , Vals, Mari‐Anne , Videira, Paula A. , Raymond, Kimiyo M, Donoghue, Sarah E , Edmondson, Andrew C , Pascoal, Carlota , Videira, Paula A , Ferreira, Carlos R , Freeze, Hudson H. , Honzík, Tomáš , Lee, Joy Li-Yueh , Sykut‐Cegielska, Jolanta , Voermans, Nicol Cornelia , Witters, Peter , Morava, Éva
Journal of Inherited Metabolic Disease | July 18, 2020 | Volume: 44 | Issue: 1 | Pages: 148-163
Abstract Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1‐CDG. PGM1‐CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life‐threatening cardiomyopathy. Unlike most other CDG, PGM1‐CDG has an effective treatment option, d ‐galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1‐CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow‐up, and management guidelines for PGM1‐CDG. These guidelines are based on the best available evidence‐based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1‐CDG patients.