tacrolimus and Congenital-Disorders-of-Glycosylation

The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Here, we examine the case of a 1-year-old male patient of Buryat origin, who presented with liver dysfunction. At the age of 3 months, he was hospitalized with jaundice and hepatosplenomegaly. Whole-exome sequencing identified the

Topics: Congenital Disorders of Glycosylation; Glycosylation; Humans; Infant; Liver Transplantation; Male; Tacrolimus; Transferrin; Vacuolar Proton-Translocating ATPases