Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.
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.
Eklund
Erik A
EA
Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, La Jolla, California 92037, USA.
Sun
Liangwu
L
Westphal
Vibeke
V
Northrop
Jennifer L
JL
Freeze
Hudson H
HH
Scaglia
Fernando
F
D001851:Bone Diseases, Metabolic; D002386:Cataract; D002493:Central Nervous System Diseases; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases; D011504:Protein-Losing Enteropathies