Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

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When to perform transferrin isofocusing? • All patients with a suspicion of a metabolic disorder • Reason: • CDG: wide spectrum, mild isolated to severe multisystem • CDG-Ib/h, fructosemia • CDG-Ix with isolated myopathy, optic nerve atrophy, DCM, ichthyosis • New phenotypes in CDG-II: adducted thumbs/microcephaly; cutis laxa; complex vertebral malformations • CDG-II with liver pathology as main feature
M M M M M M M M M Ii Fru-6-P Man-6-P Man-1-P CMP- M M M M M M M M M M M M M M IIf Ib Ik M M M M M M Id Trans Golgi M M M = dolichol-PP = dolichol = GlcNAc UDP UDP- IL M M M M M M M GDP - M P M M M M M M M M M GDP M P M M M M M P P M M M M M M M G M M M M M M M M M Cytoplasm G G M M M M M M M M M G G G M M M M M M M M M UDP GDP UDP IId Ia Ij Ie IIc UDP G Median Golgi Cis Golgi M M M M M M M = mannose = galactose = fucose G = glucose = sialic acid = COG complex If Ig IL Ic Ih IIe/IIg/IIh Diagnostic approach N-glycosylation G IIa P UDP- G G G G M P M M M M M M M OTase M Im IIb Endoplasmatic Reticulum G G M M M M M M M M M M M M M M M M M M M M M M M M M M M M M M M M M M M M
Page 1 and 2: - N - Congenital Disorders of Glyco
Page 3 and 4: General principle of Congenital Dis
Page 5 and 6: Glycoprotein Function • Protein s
Page 7: Clinical aspects of Congenital Diso
Page 11 and 12: Nomenclature changes in CDG • 199
Page 13 and 14: Transferrin protein polymorphism La
Page 15 and 16: Escape of the CDG-I vs CDG-II class
Page 17 and 18: Stage 2: CDG-II diagnostic work-up
Page 19 and 20: Glycan types • N-glycosylation: a
Page 21 and 22: Isoelectric focusing of serum apoli
Page 23 and 24: Exit Exit Options for a combined N+
Page 25 and 26: Golgi defects Conserved Oligomeric
Page 27 and 28: Model of COG complex X cog2 2 cog7
Page 29 and 30: ATP6V0A2 and glycosylation? •

Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

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