Results 11 to 20 of about 7,542 (179)

Congenital Disorders of Glycosylation: A Review [PDF]

Pediatric Research, 2002
Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited disorders caused by defects in the synthesis and processing of the asparagine(ASN)-linked oligosaccharides of glycoproteins. The first CDG patients were described in 1980. Fifteen years later, a phosphomannomutase deficiency was found as the basis of the most frequent
Grunewald, Stephanie, Matthijs, Gert, Jaeken, Jaak   +2 more
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PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

JIMD Reports, 2023
The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins.
Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange   +7 more
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Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management

Frontiers in Endocrinology, 2023
Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes.
Congli Chen, Yanmei Sang
doaj   +1 more source

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Journal of Medical Case Reports, 2018
Background Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs ...
Ruo-hao Wu, Dong-fang Li, Wen-ting Tang, Kun-yin Qiu, Yu Li, Xiong-yu Liao, Dan-xia Tang, Li-jun Qin, Bing-qing Deng, Xiang-yang Luo   +9 more
doaj   +1 more source

Epileptic spasms in congenital disorders of glycosylation [PDF]

Epileptic Disorders, 2017
AbstractAim. Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is
Pereira, AG, Bahi-Buisson, N, Barnerias, C, Boddaert, N, Nabbout, R, de Lonlay, P, Kaminska, A, Eisermann, M   +7 more
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Unsuccessful intravenous D-mannose treatment in PMM2-CDG

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, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter   +8 more
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ATP6AP1‐CDG: Follow‐up and female phenotype

JIMD Reports, 2020
In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X‐linked ATP6AP1 deficiency (ATP6AP1‐CDG).
Patryk Lipiński, Dariusz Rokicki, Anna Bogdańska, Justyna Lesiak, Dirk J. Lefeber, Anna Tylki‐Szymańska   +5 more
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ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N‐glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple
María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral   +10 more
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Congenital disorders of glycosylation with defective fucosylation [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractFucosylation is essential for intercellular and intracellular recognition, cell‐cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8‐CDG, FCSK‐CDG, POFUT1‐CDG SLC35C1‐CDG, and the only recently described ...
Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R.G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K.M., Santer, R., Herget, T., Rennings, A.J., Lefeber, D.J., Lefeber, D.J., Mayr, J.A., Thiel, C, Wortmann, S.B., Wortmann, S.B.   +21 more
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Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia

Case Reports in Ophthalmology, 2012
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
Bob Z. Wang, Pradeep Siriwardana, Deepa Taranath   +2 more
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