PMM2‐CDG caused by uniparental disomy: Case report and literature review [PDF]
JIMD Reports, 2020 Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Eva Morava +1 more
exaly +7 more sources
The development of end stage renal disease in two patients with PMM2‐CDG [PDF]
JIMD Reports, 2022 We report two patients with PMM2‐CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2‐CDG and have rarely been reported as the cause of death.
Gérard Berry +2 more
exaly +6 more sources
Mannose supplementation in PMM2-CDG [PDF]
Orphanet Journal of Rare Diseases, 2021 In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG.
Roman Taday +5 more
doaj +5 more sources
Anthropometric Phenotype of Patients with PMM2-CDG [PDF]
Children, 2021 Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and ...
Patryk Lipiński +3 more
doaj +5 more sources
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) [PDF]
Orphanet Journal of Rare Diseases, 2020 Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG ...
Roman Taday +4 more
doaj +5 more sources
AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG) [PDF]
Molecular Genetics and Metabolism ReportsInherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M Zhong
exaly +4 more sources
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis [PDF]
Orphanet Journal of Rare DiseasesBackground Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro +10 more
doaj +5 more sources
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report [PDF]
Frontiers in Genetics, 2020 Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Hana Hansikova +2 more
exaly +4 more sources
Unsuccessful intravenous D-mannose treatment in PMM2-CDG [PDF]
Orphanet Journal of Rare Diseases, 2019 Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life.
Sarah C. Grünert +8 more
doaj +6 more sources
A complement C4–derived glycopeptide is a biomarker for PMM2-CDG [PDF]
JCI InsightBACKGROUND Diagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age.
Kishore Garapati +22 more
doaj +4 more sources