N-glycosylation has been named by the process of adding an N-glycan to a protein, where more than 50% of all proteins in humans have been suggested to be N-glycosylated. A defect in N-glycosylation therefore affects thousands of proteins and determination of which of the defected proteins ...
This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because of mannosyl-oligosaccharide glucosidase (MOGS) deficiency. The siblings visited our hospital due to "pulmonary infection". Facial dysmorphism including long eyelashes, blepharo...
Lehavi, AmitMandel, HannaKatz, Yeshayahu (Shai)International Journal of Clinical MedicineLehavi A, Mandel H, Katz YS. Anesthetic management of a boy with congenital disorder of glycosylation (CDG) I-x. Int J Clin Med. 2011;2:325-7.
Keywords Congenital disorder(s) of glycosylation, CDG, Rare disease, Intellectual property, Patent, Drug Discovery, Diagnosis Background According to the Orphan Drug Act, a rare disease is a disease or condition that impacts fewer than 200,000 people in the US [1, 2]. European Union ...
Glycosylation is an integral part in health and disease, as emphasized by the growing number of identified glycosylation defects. In humans, proteins are modified with a diverse range of glycoforms synthesized in complex biosynthetic pathways. Glycosylat
www.nature.com/scientificreports OPEN Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease received: 12 May 2016 accepted: 06 September 2016 Published: 11 October 2016 Andreas J. Hülsmeier1, Micha Tobler2, Patricie Burda2 & Thierry Hennet...
Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors of metabolism. To date, some 50 different CDG types have been identified, and most of them affect protein glycosylation (defects in N-glycosylation, O-glycosylation, and both N- and O-glycosylation).1, 2...
PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the most frequent form of inherited CDG-diseases affecting protein N-glycosylation in human. PMM2-CDG is a multisystemic ...
Congenital disorders of glycosylation (CDG) frequently present with skeletal abnormalities including scoliosis and osteopenia (1-3). Meta-physeal dysplasia has been described in CDG-I patients with PMM2-CDG, ALG6-CDG and ALG12-CDG (3). A few children have been reported with unique types of ...
PGM3-CDG is a multisystem disorder with predominant immunological involvement. The majority of the patients showed recurrent infections (skin, ears, lungs, gastrointestinal system; mainly S. aureus infections, candidiasis and viral infections), atopic disease (eczema, asthma, multiple allergies), psychom...