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Entry
N00671                      Network                                

Name
PMM2 deficiency in N-glycan precursor biosynthesis
Definition
Glc-6P -- GPI >> MPI >> PMM2*
  Expanded
C00668 -- 2821 >> 4351 >> 5373v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00520  Amino sugar and nucleotide sugar metabolism
Disease
H00118  Congenital disorders of glycosylation type I
Gene
2821  GPI; glucose-6-phosphate isomerase
4351  MPI; mannose phosphate isomerase
5373  PMM2; phosphomannomutase 2
Variant
5373v1  PMM2 deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
  Authors
Vals MA, Morava E, Teeaar K, Zordania R, Pajusalu S, Lefeber DJ, Ounap K
  Title
Three families with mild PMM2-CDG and normal cognitive development.
  Journal
Am J Med Genet A 173:1620-1624 (2017)
DOI:10.1002/ajmg.a.38235
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