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The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant

Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland
Department of Medical Physics, Maria Sklodowska-Curie National Research Institute of Oncology, 44-102 Gliwice, Poland
Department of Pediatrics, Nutrition and Metabolic Disorders, Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Carl Stafstrom
Received: 4 February 2021 / Revised: 7 March 2021 / Accepted: 19 March 2021 / Published: 23 March 2021
Background: ALG13-CDG belongs to the congenital disorders of glycosylation (CDG), which is an expanding group of multisystemic metabolic disorders caused by the N-linked, O-linked oligosaccharides, shared substrates, glycophosphatidylinositol (GPI) anchors, and dolichols pathways with high genetic heterogeneity. Thus, as far as clinical presentation, laboratory findings, and treatment are concerned, many questions are to be answered. Three individuals presented here may serve as a good example of clinical heterogeneity. This manuscript describes the first metabolomic analysis using NMR in three patients with epileptic encephalopathy due to the recurrent c.320A>G variant in ALG13, characterized to date only in about 60 individuals (mostly female). This is an important preliminary step in the understanding of the pathogenesis of the disease associated with this variant in the rare genetic condition. The disease is assumed to be a disorder of N-glycosylation given that this is the only known function of the ALG13 protein. Despite this, protein electrophoresis, which is abnormal in most conditions due to abnormalities in N-glycosylation, has been normal or only mildly abnormal in the ALG13 patients. Methods: Nuclear magnetic resonance (NMR) spectroscopy in conjunction with multivariate and univariate modelling were used to analyze the metabolic profile of the blood serum samples acquired from the studied patients. Results: Three metabolites were identified as potential biomarkers: betaine, N-acetyl-glycoprotein, and carnitine. Conclusions: Since presented data are the first to be collected so far, they need be verified in further studies. Our intention was to turn attention toward possible CDG-ALG13 laboratory markers that would have clinical significance. View Full-Text
Keywords: ALG13-CDG; c.320A>G variant (p.Asn107Ser); epilepsy; metabolome ALG13-CDG; c.320A>G variant (p.Asn107Ser); epilepsy; metabolome
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MDPI and ACS Style

Paprocka, J.; Jezela-Stanek, A.; Boguszewicz, Ł.; Sokół, M.; Lipiński, P.; Jamroz, E.; Emich-Widera, E.; Tylki-Szymańska, A. The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant. Children 2021, 8, 251.

AMA Style

Paprocka J, Jezela-Stanek A, Boguszewicz Ł, Sokół M, Lipiński P, Jamroz E, Emich-Widera E, Tylki-Szymańska A. The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant. Children. 2021; 8(3):251.

Chicago/Turabian Style

Paprocka, Justyna, Aleksandra Jezela-Stanek, Łukasz Boguszewicz, Maria Sokół, Patryk Lipiński, Ewa Jamroz, Ewa Emich-Widera, and Anna Tylki-Szymańska. 2021. "The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant" Children 8, no. 3: 251.

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