Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Article ID	Journal	Published Year	Pages	File Type
10091417	The Journal of Pediatrics	2005	4 Pages	PDF

Abstract

We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.

Keywords

Dol-P PLE Glc GlcNAc Castanospermine AAT LLO CDG CSt α-1-antitrypsin congenital disorder of glycosylation Lipid-linked oligosaccharide CNS reverse transcription central nervous system Mannose Man N-acetylglucosamine Heparan sulfate polymerase chain reaction PCR Protein-losing enteropathy Glucose

Related Topics

Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health

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Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Authors

Erik A. MD, PhD, Liangwu PhD, Vibeke PhD, Jennifer L. MD, PhD, Hudson H. PhD, Fernando MD,