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congenital disorder of glycosylation type 1K

Also see congenital disorder of glycosylation Genetics: - associated with mutation in gene for ALG1 Clinical manifestations: - CDG-Ik patients usually die in early infancy

Related

UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase; GlcNAc-1-P transferase; G1PT; GPT; N-acetylglucosamine-1-phosphate transferase (DPAGT1, DPAGT2)

General

congenital disorder of glycosylation

Database Correlations

OMIM 608540

References

  1. OMIM :accession 608540
  2. UniProt :accession Q9BT22