Congenital disorders of glycosylation with defective fucosylation

Hüllen, Andreas; Falkenstein, Kristina; Weigel, Christiane; Huidekoper, Hidde H.; Naumann-Bartsch, Nora; Spenger, Johannes; Feichtinger, René G.; Schaefers, Jacqueline; Frenz, Stephanie; Kotlarz, Daniel; Momen, Tooba; Khoshnevisan, Razieh; Riedhammer, Korbinian; Santer, René; Herget, Theresia; Rennings, Alexander J.; Lefeber, Dirk; Mayr, Johannes A.; Thiel, Christian; Wortmann, Saskia B.

doi:10.1002/jimd.12426

Cited by 14 publications

(10 citation statements)

References 40 publications

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“…Although some 160 CDG-causing genes associated with about 210 distinct clinically defined phenotypes have been reported [12,13], we present epidemiological data on only 93 CDG. The number of patients of the remaining CDG is too small or the reported information is too scarce for an epidemiological study [44,85,86,97,112,119,120,133,155,157]. This underlies CDG heterogeneity, patient geographical dispersion, and the likelihood that many patients are still unreported.…”

Section: Discussionmentioning

confidence: 99%

“…Some case reports did not report the patients' nationality but their ethnicity. FKRP-CDG [120] FKTN-CDG [120][121][122][123] FUT8-CDG [119] GALNT2-CDG [124] GALNT3-CDG [83,125,126] GFPT1-CDG [41,105,[127][128][129] GFUS-CDG [86,119] GMPPB-CDG [130,131] GMPPA-CDG [132] LARGE-CDG [61] LFNG-CDG [133] PIGG-CDG [145] PIGN-CDG [115] PIGP-CDG [146] PIGQ-CDG [115] PIGS-CDG [147] PIGT-CDG [148] PIGV-CDG [149] PIGW-CDG [115,150] PMM2-CDG >1000 [38] POMGNT1-CDG [61] POMT1-CDG [49,61,120 Europe was the continent with the highest number of reported CDG patients (n=618), followed by Asia (n=416), America (n=243, approximately 190 from the USA), and Africa (n=22). Additionally, two XYLT2-CDG Australian patients [167] were considered as well.…”

Section: Summary Of Demographic and Clinical Characteristicsmentioning

confidence: 99%

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Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

et al. 2022

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Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise available data on the epidemiology of CDG. Methods A set of keywords related to epidemiology and CDG was defined. The keywords were combined through a custom Python script, search through the MEDLINE database, using PubMed as the search engine. The script retrieved the correspondent MEDLINE data from each article, and the relevant information was exported. Next, inclusion and exclusion criteria were set and applied during the selection phase. Finally, epidemiology-related information was extracted and compiled. Results One hundred sixty-five papers on CDG epidemiology were included in this literature review. Most of them reported on the frequency of symptoms in CDG patients followed in cohort studies, on pathogenic variant allelic frequency, and on the prevalence of the disorder in populations. According to this review, the most reported CDG was phosphomannomutase-2 deficiency (PMM2-CDG) followed in descending order by FKTN-CDG, EXT1/EXT2-CDG, ALG6-CDG, and PIGA-CDG. Conclusions We provide an overview on epidemiological data regarding 93 CDG by compiling information from the literature. Generating epidemiological data on CDG is important to appropriately target resources for CDG research and drug development and to support public health decision-making.

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Section: Discussionmentioning

confidence: 99%

Section: Summary Of Demographic and Clinical Characteristicsmentioning

confidence: 99%

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

et al. 2022

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“…LADII was rst diagnosed in 1992 [15]. To date, 19 individuals bearing inactivating mutations in the SLC35C1 gene have been reported [14][15][16][17][18][19][20][21][22][23] with a predominance of point mutations.…”

Section: Introductionmentioning

confidence: 99%

Insights into fucose metabolism: SLC35C1-independent fucosylation discriminates against mannose-derived GDP-fucose

Skurska

Szulc

Maszczak‐Seneczko

et al. 2021

Preprint

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Mutations in the SLC35C1 gene, encoding the Golgi GDP-fucose transporter, cause leukocyte adhesion deficiency II (LADII). Fucosylation improvement in LADII patients treated with fucose suggests the existence of an SLC35C1-independent route of GDP-fucose transport, which still remains a mystery. Here, we developed and characterized a human cell-based model deficient in the SLC35C1 activity. The knockout cells displayed low but detectable levels of fucosylation. Strikingly, the fucosylation defect was almost completely reversed upon treatment with millimolar concentrations of fucose. Even if fucose was supplemented at nanomolar concentrations, it was still incorporated into glycans by the knockout cells. We also found that the SLC35C1-independent transport preferred the salvage pathway over the de novo pathway as a source of GDP-fucose. Our results imply that the Golgi systems of GDP-fucose transport discriminate between the substrate pools obtained from different metabolic pathways, which suggests a functional connection between nucleotide sugar transporters and nucleotide sugar synthetases.

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“…Unlike D-glucose, membrane transport of L-fucose in humans has not garnered interest despite several studies showing the clinical benefits of oral L-fucose in treating leukocyte adhesion deficiency type II [OMIM 266265], GFUS-CDG, and certain cancers ( 8 , 9 ). Cellular fucosylation in mammals can be achieved via two mechanisms, de novo synthesis or salvage/recycling of L-fucose.…”

mentioning

confidence: 99%