Results 1 to 10 of about 7,768 (132)

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes [PDF]

Frontiers in Endocrinology
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi   +13 more
doaj   +4 more sources

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Therapeutic Advances in Rare Disease, 2022
This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj   +2 more sources

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia [PDF]

Molecular Genetics and Metabolism Reports
Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms ...
Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen   +6 more
doaj   +2 more sources

B4GALT5 deficiency impairs glycosphingolipid biosynthesis: a new congenital disorder of glycosylation? [PDF]

Journal of Lipid Research
Lactosylceramide is a glycosphingolipid precursor synthesized by two dedicated galactosyltransferases, B4GALT5 and B4GALT6. The specific roles of B4GALT5 and B4GALT6 in humans have not yet been clearly defined.
Linda Montavoci, Michele Dei Cas, Anna Caretti, Omar Ben Mariem, Ivano Eberini, Laura Giaquinto, Alessandro De Falco, Maria Antonietta de Matteis, Nicola Brunetti-Pierri, Marco Trinchera   +9 more
doaj   +2 more sources

The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report [PDF]

BMC Psychiatry
Attention deficit hyperactivity disorder (ADHD) is a relatively common disorder in clinical psychiatry. Patients often suffer from symptoms long before the diagnosis due to an overlap with other psychiatric differential diagnosis.
Timo Jendrik Faustmann, Lukas Hensel, Armin Bahic, Yoshinao Wada, Marianne Grüneberg, Thorsten Marquardt, Daniel Kamp, Leonhard Schilbach   +7 more
doaj   +2 more sources

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome [PDF]

Heliyon
Glycosylation is the most common protein and lipid post-translational modification in humans. Congenital disorders of glycosylation (CDG) are characterized by both genetic and clinical heterogeneity, presenting multisystemic manifestations, and in most ...
Lyvia Neves Rebello Alves, Lívia Valle dos Santos Silveira, Raquel Silva dos Reis Trabach, Débora Dummer Meira, Eldamária de Vargas Wolfgramm dos Santos, Iúri Drumond Louro   +5 more
doaj   +2 more sources

Protein losing enteropathy due to congenital disorder of glycosylation: A case report [PDF]

SAGE Open Medical Case Reports
Protein-Losing Enteropathy (PLE) is the loss of protein through the gastrointestinal tract, subsequently leading to low levels of protein in the serum. The differential diagnosis for PLE is broad, and treatment is based on identifying and appropriately ...
Joanna Odenthal MD, Henry C. Lin MD, Kimberly Trieschmann MD   +2 more
doaj   +2 more sources

Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model [PDF]

Molecular Genetics & Genomic Medicine
Background FCSK‐congenital disorder of glycosylation (FCSK‐CDG) is a recently discovered rare autosomal recessive genetic disorder with defective fucosylation due to mutations in the fucokinase encoding gene, FCSK.
Maryam Fazelzadeh Haghighi, Hossein Jafari Khamirani, Jafar Fallahi, Ali Arabi Monfared, Korosh Ashrafi Dehkordi, Seyed Mohammad Bagher Tabei   +5 more
doaj   +2 more sources

A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report

Clinical Case Reports, 2022
Steroid 5α‐reductase type 3 congenital disorder of glycosylation (SRD5A3‐CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities ...
Sayyed Hesamedin Nabavizadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Hossein Esmaeilzadeh, Soheila Sadat Alyasin   +5 more
doaj   +1 more source

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
doaj   +1 more source