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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.
Christina Lam, Eva Morava, Anna Ligęzka
exaly   +4 more sources

New and potential strategies for the treatment of PMM2-CDG

Biochimica Et Biophysica Acta - General Subjects, 2020
Mutations in the PMM2 gene cause phosphomannomutase 2 deficiency (PMM2; MIM# 212065), which manifests as a congenital disorder of glycosylation (PMM2-CDG). Mutant PMM2 leads to the reduced conversion of Man-6-P to Man-1-P, which results in low concentrations of guanosine 5'-diphospho-D-mannose, a nucleotide-activated sugar essential for the ...
Alejandra Gamez, Mercedes Serrano, Diana Gallego   +2 more
exaly   +6 more sources

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Thrombotic complications in patients with PMM2-CDG

Molecular Genetics and Metabolism, 2013
Many proteins regulating coagulation, including factor IX, factor XI, Antithrombin-III, Protein C and Protein S are deficient or decreased in activity in congenital disorders of glycosylation (CDG). Because of the imbalance of coagulation and anticoagulation factors, some patients develop acute vascular events, such as thrombosis.
Linssen, M., Mohamed, M., Wevers, R.A., Wevers, R.A., Wevers, R.A., Lefeber, D.J., Lefeber, D.J., Morava, E., Morava, E.   +8 more
openaire   +3 more sources

Abnormal fat distribution in PMM2-CDG

Molecular Genetics and Metabolism, 2013
We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while ...
Wolthuis, D.F., Asbeck, E.V. van, Kozicz, L.T., Morava, E.   +3 more
exaly   +4 more sources

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG)

Journal of Inherited Metabolic Disease, 2011
AbstractDeficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis.
Ana Isabel, Vega, Celia, Pérez-Cerdá, David, Abia, Alejandra, Gámez, Paz, Briones, Rafael, Artuch, Lourdes R, Desviat, Magdalena, Ugarte, Belén, Pérez   +8 more
openaire   +2 more sources

Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients

Thrombosis Research, 2014
PMM2-CDG, the most frequent congenital disorder of N-glycosylation, is an autosomal recessive disease with a multisystem presentation. PMM2-CDG patients show an increased risk for thrombosis, which might be in part due to spontaneous platelet aggregations as previously described.
Kathleen Freson
exaly   +3 more sources

PMM2-CDG: Phenotype and genotype in four affected family members

Gene, 2013
Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients. Here we report on a large Italian family with four affected members and three mutations.
Bortot, Barbara, Cosentini, Dora, Faletra, Flavio, Biffi, Stefania, DE MARTINO, ELEONORA, Carrozzi, Marco, Severini, Giovanni Maria   +6 more
openaire   +3 more sources

“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics

PROTEOMICS – Clinical Applications, 2023
AbstractPurposeCongenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn errors of metabolism. Despite the availability of next‐generation sequencing techniques and advanced methods for evaluation of glycosylation, CDG screening mainly relies on the analysis of serum transferrin (Tf) by isoelectric focusing, HPLC or ...
Raynor, Alexandre, Bruneel, Arnaud, Vermeersch, Pieter, Cholet, Sophie, Friedrich, Sebastian, Eckenweiler, Matthias, Schumann, Anke, Hengst, Simone, Tuncel, Ali Tunç, Fenaille, François, Thiel, Christian, Rymen, Daisy   +11 more
openaire   +4 more sources

Sugar-bisphosphates to cure PMM2-CDG?

2021
INTRODUCTION PMM2-CDG is the most common congenital disorder of glycosylation (CDGs). It is caused by mutations in the gene PMM2, encoding the enzyme phosphomannomutase-2 (PMM2). A defective PMM2 leads to GDP- mannose deficiency and hypoglycosylation of numerous glycoproteins. At the present, PMM2-CDG has no cure. The use of pharmacological chaperones (
M. Allocca, M. Monticelli, MV Cubellis, G. Andreotti   +3 more
openaire   +1 more source