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

Erik A Eklund; Liangwu Sun; Vibeke Westphal; Jennifer L Northrop; Hudson H Freeze; Fernando Scaglia

doi:10.1016/j.jpeds.2005.07.042

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

J Pediatr. 2005 Dec;147(6):847-50. doi: 10.1016/j.jpeds.2005.07.042.

Authors

Erik A Eklund¹, Liangwu Sun, Vibeke Westphal, Jennifer L Northrop, Hudson H Freeze, Fernando Scaglia

Affiliation

¹ Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, La Jolla, California 92037, USA.

PMID: 16356445
DOI: 10.1016/j.jpeds.2005.07.042

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.

Publication types

Case Reports

MeSH terms

Bone Diseases, Metabolic
Cataract
Central Nervous System Diseases*
Congenital Disorders of Glycosylation* / diagnosis
Congenital Disorders of Glycosylation* / genetics
Congenital Disorders of Glycosylation* / metabolism
Fatal Outcome
Humans
Infant, Newborn
Liver Diseases*
Protein-Losing Enteropathies*