scholarly journals Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction

2020 ◽  
Author(s):  
Rie Anzai ◽  
Megumi Tsuji ◽  
Sumimasa Yamashita ◽  
Yoshinao Wada ◽  
Nobuhiko Okamoto ◽  
...  
Keyword(s):  
Hepatic Dysfunction ◽  
Epileptic Encephalopathy ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Dysmorphic Features

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

2017 ◽  
Vol 63 (3) ◽  
pp. 383-386 ◽  
Author(s):  
Yoon-Myung Kim ◽  
Go Hun Seo ◽  
Euiseok Jung ◽  
Ja-Hyun Jang ◽  
Sook Za Kim ◽  
...  
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Dysmorphic Features

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG)

2017 ◽  
Vol 39 (4) ◽  
pp. 366-367 ◽  
Author(s):  
Agata Fiumara ◽  
Rita Barone ◽  
Giuliana Del Campo ◽  
Pasquale Striano ◽  
Jaak Jaeken
Keyword(s):  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

2016 ◽  
Vol 58 (10) ◽  
pp. 1085-1091 ◽  
Author(s):  
Carmen Barba ◽  
Francesca Darra ◽  
Raffaella Cusmai ◽  
Elena Procopio ◽  
Carlo Dionisi Vici ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Partial Seizures ◽  
Migrating Partial Seizures

scholarly journals A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype

2021 ◽  
pp. 1-6
Author(s):  
Antonio Gennaro Nicotera ◽  
Giulia Spoto ◽  
Francesco Calì ◽  
Giusi Romeo ◽  
Antonino Musumeci ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Genetic Diseases ◽  
Failure To Thrive ◽  
Congenital Disorders ◽  
Homozygous Mutation ◽  
Congenital Disorders Of Glycosylation ◽  
Mild Phenotype ◽  
Dysmorphic Features ◽  
Rare Genetic Diseases

Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes involved in the biosynthesis or remodeling of the glycan moieties of glycoconjugates. Most of CDG are autosomal recessive; however, few of them show autosomal dominant or X-linked inheritance. ALG12-CDG is an autosomal recessive inherited defect caused by a deficiency in the α-mannosyltransferase, dolichyl-P-mannose: Man7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase (mannosyltransferase 8), which determines Man7GlcNAc2-PP-dolichol accumulation in tissues including fibroblasts. The clinical features of ALG12-CDG include dysmorphic features, developmental delay, hypotonia, progressive microcephaly, hypogammaglobulinemia, coagulopathies, and failure to thrive. Herein, we describe the case of a Sicilian patient with a milder phenotype bearing an <i>ALG12</i> homozygous mutation. To date, including this patient, only 16 cases have been described with this form of CDG. Furthermore, our study contributes to understanding the milder ALG12-CDG cases and to further expanding the genotype-phenotype spectrum.

scholarly journals Congenital disorders of glycosylation in children - histopathological and ultrastructural changes in the liver

2021 ◽  
Author(s):  
Patryk Lipiński ◽  
Joanna Cielecka-Kuszyk ◽  
Elżbieta Czarnowska ◽  
Anna Bogdańska ◽  
Piotr Socha ◽  
...  
Keyword(s):  
Ultrastructural Changes ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!

2021 ◽  
Author(s):  
Alexandre Raynor ◽  
Catherine Vincent-Delorme ◽  
Anne-Sophie Alaix ◽  
Sophie Cholet ◽  
Thierry Dupré ◽  
...  
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Apolipoprotein C
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