congenital disorder of glycosylation type 1K

Introduction

Also see congenital disorder of glycosylation

Genetics

• associated with mutation in gene for ALG1

Clinical manifestations

• CDG-Ik patients usually die in early infancy

More general terms

• congenital disorder of glycosylation

Additional terms

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

Database

• OMIM: https://mirror.omim.org/entry/608540