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PMID: 30740408 Published · ppublish English Journal Article Review

Congenital disorders of glycosylation.

Annals of translational medicine ·Vol. 6 ·No. 24 ·2018-12-00 ·Pages 477

Chang IJ, He M, Lam CT

Abstract

Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms, and variable coagulation and endocrine abnormalities. Carbohydrate deficient transferrin (CDT) and protein-linked glycan analysis with mass spectrometry can diagnose some subtypes of congenital disorders of glycosylation (CDG), while many currently rely on massively parallel genomic sequencing for diagnosis. Early detection is important, as a few of these disorders are treatable. Molecular and biochemical techniques continue to further our understanding of this rapidly expanding group of clinically and genetically diverse disorders.

Keywords
ALG6-CDG Congenital disorders of glycosylation MPI-CDG N-linked glycosylation O-linked glycosylation PMM2-CDG carbohydrate deficient glycoprotein syndrome carbohydrate deficient transferrin congenital disorders of glycosylation (CDG) lipid glycosylation defects
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Chang Irene J
Division of Biochemical Genetics, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
He Miao
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Lam Christina T
Division of Biochemical Genetics, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Conflict of Interest

Conflicts of Interest: The authors have no conflicts of interest to declare.

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Article Info
Journal
Annals of translational medicine
Abbr.
Ann Transl Med
ISSN
2305-5839
DOI
10.21037/atm.2018.10.45
Published
2018-12-00
Pages
477
Language
English
Region
China
NLM ID
101617978
PMCID
PMC6331365
Grants
NIGMS NIH HHS · T32 GM007454 · United States
External Links
PubMed source DOI: 10.21037/atm.2018.10.45 PMC Full Text
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