New and potential strategies for the treatment of PMM2-CDG [PDF]
Biochimica et Biophysica Acta (BBA) - 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 ...
Gámez Abascal, María Alejandra +4 more
openaire +6 more sources
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study [PDF]
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 +8 more
doaj +2 more sources
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG [PDF]
Scientific ReportsPhosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients.
Renata Mangione +20 more
doaj +2 more sources
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study [PDF]
Scientific Reports, 2023 Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown.
Florencia Epifani +16 more
doaj +2 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.
Henna Tiwary +4 more
doaj +2 more sources
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin [PDF]
Molecular Genetics and Metabolism Reports, 2020 Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern ...
C.A. González-Domínguez +11 more
doaj +2 more sources
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders.
Raquel López-Gálvez +10 more
doaj +2 more sources
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG [PDF]
Molecular Genetics and Metabolism Reports, 2021 We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern.
C.A. González-Domínguez +16 more
doaj +2 more sources
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects [PDF]
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 +12 more
doaj +2 more sources
Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]
JIMD RepABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Jalazo ER +4 more
europepmc +2 more sources