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 +10 more
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Mannose supplementation in PMM2-CDG
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
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Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies [PDF]
, 2022 ©. This manuscript version is made available under the CC-BY-NC 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the, Accepted, version of a Published Work that appeared in final form in Glycobiology.
Ruiz-Lafuente, Natalia +10 more
core +1 more source
PMM2‐CDG and nephrotic syndrome: A case report
Clinical Case Reports, 2022 Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can ...
Giuseppe Banderali +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patient to patient.
Rodrigo Tzovenos Starosta +9 more
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Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
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
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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 +4 more
doaj +1 more source
Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. [PDF]
Mol Genet Genomic MedA rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Niu M, Wang D, Jia S.
europepmc +2 more sources
Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis
Case Reports in Nephrology, 2020 Anterior ischemic optic neuropathy (AION) occurs due to hypoperfusion of the optic nerve and is a rare complication in patients receiving maintenance dialysis.
Joyce Moore +6 more
doaj +1 more source
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. [PDF]
Mol Genet Genomic Med, 2013 Phosphomannomutase 2 (PMM2) deficiency represents the most frequent type of congenital disorders of glycosylation. For this disease there is no cure at present.
Andreotti G +3 more
europepmc +2 more sources