Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

Short LLO:
normal
M
M M
M
M
M
M
M
M
Ii
M
M
M
M
M
M
M
M M
M
M
Ik
M
M M
M M
M
Id
Mevalonaat
Dehydrodolichol-PP
dolichol
UDP
IL
UDP -
M
M
M
M
Ij
M M
M
P
M
M
M
Stage 2: CDG-I diagnostic work-up
M-1-P M-6-P
GDP - M
Ie
M
M M
M
M
M
P
M
M
M
Ia
GDP
P P
M
M M
M M
M
M
G
M M M
M M M
M M
M
Ig IL Ic Ih
G
G
M M M
M M M
M M
M
Cytoplasm
Fr-6-P
G
G
G
M M M
M M M
M M
M
UDP- G UDP
Lipid-linked Oligosaccharide (LLO) analysis
If
Ib
G
G
P
G
G
G
M
P
M
M
M M M
M M
OTase M
Endoplasmatic Reticulum
G
G
M M M
M M M
M M
M
= dolichol
= GlcNAc
M M M
M M M
M M
M
M
G
M M
M M M
M M
M
= mannose
= glucose
16