Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Congenital disorders of glycosylation (CDG) comprise a clinically and biochemically heterogeneous group of monogenetic-inherited, multisystemic diseases that affect the biosynthesis of N- and/or O-glycans linked to glycoconjugates. Recently, we identified the first patient with a defect in the cytosolic-orientated GDP-mannose:Man(3-4) GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase (ALG11), who presented an accumulation of shortened dolichol-linked oligosaccharides leading to CDG-Ip (ALG11-CDG). Here we describe an improved metabolic labeling method that allowed the identification of three new CDG-Ip cases that were missed so far in routine diagnostics. Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life.
Department Kinderheilkunde I, Center for Child and Adolescent Medicine, Im Neuenheimer Feld 153, Heidelberg, Germany. christian.thiel@med.uni-heidelberg.de
Christian
C
Thiel
Nina
N
Rind
Diana
D
Popovici
Georg F
GF
Hoffmann
Kristen
K
Hanson
Robert L
RL
Conway
Craig R
CR
Adamski
Elizabeth
E
Butler
Rhonda
R
Scanlon
Marie
M
Lambert
Neophytos
N
Apeshiotis
Charlotte
C
Thiels
Gert
G
Matthijs
Christian
C
Körner
D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000201:enzymology / Q000235:genetics*; D004286:Dolichols / Q000737:chemistry; D005260:Female; D006031:Glycosylation; D006801:Humans; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics; D009844:Oligosaccharides / Q000737:chemistry / Q000378:metabolism
D004286:Dolichols; D009844:Oligosaccharides; C552163:ALG11 protein, human; D008364:Mannosyltransferases