Results 41 to 50 of about 1,755 (160)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
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.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

Molecular Genetics and Metabolism Reports, 2020
Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Verena Peters, Sabine Strahl, Jaime Vázquez-Jiménez, Gunter Kerst, Christian Thiel   +12 more
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Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

Annals of Neurology, 2021
ObjectiveEpalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM) enzyme activity in a PMM2‐congenital disorders of glycosylation (CDG) worm model. Epalrestat also decreases sorbitol level in diabetic neuropathy. We evaluated the genetic, biochemical, and clinical characteristics, including the Nijmegen Progression CDG Rating Scale (
Ligezka, Anna N., Radenkovic, Silvia, Saraswat, Mayank, Garapati, Kishore, Ranatunga, Wasantha, Krzysciak, Wirginia, Yanaihara, Hitoshi, Preston, Graeme, Brucker, William, McGovern, Renee M., Reid, Joel M., Cassiman, David, Muthusamy, Karthik, Johnsen, Christin, Mercimek-Andrews, Saadet, Larson, Austin, Lam, Christina, Edmondson, Andrew C., Ghesquiere, Bart, Witters, Peter, Raymond, Kimiyo, Oglesbee, Devin, Pandey, Akhilesh, Perlstein, Ethan O., Kozicz, Tamas, Morava, Eva   +25 more
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Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). [PDF]

PLoS ONE, 2016
PMM2-CDG is the most common N-glycosylation defect and shows an increased risk of recurrent and/or severe, sometimes fatal, infections in early life. We hypothesized that natural killer (NK) cells, as important mediators of the immune response against ...
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles   +7 more
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PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India

Global Medical Genetics, 2023
Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy.
N. Sreedevi, N. Swapna, Santosh Maruthy, H.S. Meghavathi, Charles Sylvester   +4 more
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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment [PDF]

Orphanet Journal of Rare Diseases, 2015
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
García-Cazorla, Angels, Pérez-Dueñas, Belén, Serrano, Mercedes, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Cuadras, Cristina, Jaeken, Jaak, Artuch, Rafael, De Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Pérez González, María Belén, Velázquez, Ramón, Boix, Cristina, Robles, Bernabé, O'Callaghan, M. Mar, Poo, Pilar, Fons, Carmen, Pérez-Cerdá, Celia   +22 more
openaire   +5 more sources

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz   +13 more
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Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Orphanet Journal of Rare Diseases, 2021
A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients.
Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava   +8 more
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Patient-reported outcomes and quality of life in PMM2-CDG

Molecular Genetics and Metabolism, 2022
Patient-reported outcomes (PROs) measure important aspects of disease burden, however they have received limited attention in the care of patients with Congenital Disorders of Glycosylation (CDG). We evaluated the PROs and correlation between clinical disease severity scoring and reported quality of life (QoL) in a PMM2-CDG patient cohort.
Anna N, Ligezka, Anab, Mohamed, Carlota, Pascoal, Vanessa Dos Reis, Ferreira, Suzanne, Boyer, Christina, Lam, Andrew, Edmondson, Wirginia, Krzysciak, Raphael, Golebiowski, Judit, Perez-Ortiz, Eva, Morava   +10 more
openaire   +3 more sources

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Therapeutic Advances in Rare Disease, 2022
This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj   +1 more source